UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37049106dup | CA2673582435 | NIPBL | c.6764-5dup (n.6764-5dup) c.1-15472dup (n.1-15472dup) c.6020-5dup (n.6020-5dup) c.6566-5dup (n.6566-5dup) c.6383-5dup (n.6383-5dup) c.6104-5dup (n.6104-5dup) c.5147-5dup (n.5147-5dup) c.5138-5dup (n.5138-5dup) | gnomAD v4 |
| 5 | g.37049106del | CA2673582436 | NIPBL | c.6764-5del (n.6764-5del) c.1-15472del (n.1-15472del) c.6020-5del (n.6020-5del) c.6566-5del (n.6566-5del) c.6383-5del (n.6383-5del) c.6104-5del (n.6104-5del) c.5147-5del (n.5147-5del) c.5138-5del (n.5138-5del) | gnomAD v4 |
| 5 | g.37049105T>C | CA559021907 | NIPBL | c.6764-6T>C (n.6764-6T>C) c.1-15473T>C (n.1-15473T>C) c.6020-6T>C (n.6020-6T>C) c.6566-6T>C (n.6566-6T>C) c.6383-6T>C (n.6383-6T>C) c.6104-6T>C (n.6104-6T>C) c.5147-6T>C (n.5147-6T>C) c.5138-6T>C (n.5138-6T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049105T= | CA1539568298 | NIPBL | c.6764-6T= (n.6764-6T=) c.1-15473T= (n.1-15473T=) c.6020-6T= (n.6020-6T=) c.6566-6T= (n.6566-6T=) c.6383-6T= (n.6383-6T=) c.6104-6T= (n.6104-6T=) c.5147-6T= (n.5147-6T=) c.5138-6T= (n.5138-6T=) | |
| 5 | g.37049107G>A | CA3237072 | NIPBL | c.6764-4G>A (n.6764-4G>A) c.1-15471G>A (n.1-15471G>A) c.6020-4G>A (n.6020-4G>A) c.6566-4G>A (n.6566-4G>A) c.6383-4G>A (n.6383-4G>A) c.6104-4G>A (n.6104-4G>A) c.5147-4G>A (n.5147-4G>A) c.5138-4G>A (n.5138-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37049107G>C | CA16604904 | NIPBL | c.6764-4G>C (n.6764-4G>C) c.1-15471G>C (n.1-15471G>C) c.6020-4G>C (n.6020-4G>C) c.6566-4G>C (n.6566-4G>C) c.6383-4G>C (n.6383-4G>C) c.6104-4G>C (n.6104-4G>C) c.5147-4G>C (n.5147-4G>C) c.5138-4G>C (n.5138-4G>C) | ClinVar dbSNP gnomAD v2 |
| 5 | g.37049107G= | CA1539568305 | NIPBL | c.6764-4G= (n.6764-4G=) c.1-15471G= (n.1-15471G=) c.6020-4G= (n.6020-4G=) c.6566-4G= (n.6566-4G=) c.6383-4G= (n.6383-4G=) c.6104-4G= (n.6104-4G=) c.5147-4G= (n.5147-4G=) c.5138-4G= (n.5138-4G=) | |
| 5 | g.37049108dup | CA2673582437 | NIPBL | c.6764-3dup (n.6764-3dup) c.1-15470dup (n.1-15470dup) c.6020-3dup (n.6020-3dup) c.6566-3dup (n.6566-3dup) c.6383-3dup (n.6383-3dup) c.6104-3dup (n.6104-3dup) c.5147-3dup (n.5147-3dup) c.5138-3dup (n.5138-3dup) | gnomAD v4 |
| 5 | g.37049109A>C | CA359508673 | NIPBL | c.6764-2A>C (n.6764-2A>C) c.1-15469A>C (n.1-15469A>C) c.6020-2A>C (n.6020-2A>C) c.6566-2A>C (n.6566-2A>C) c.6383-2A>C (n.6383-2A>C) c.6104-2A>C (n.6104-2A>C) c.5147-2A>C (n.5147-2A>C) c.5138-2A>C (n.5138-2A>C) | |
| 5 | g.37049109A>G | CA359508674 | NIPBL | c.6764-2A>G (n.6764-2A>G) c.1-15469A>G (n.1-15469A>G) c.6020-2A>G (n.6020-2A>G) c.6566-2A>G (n.6566-2A>G) c.6383-2A>G (n.6383-2A>G) c.6104-2A>G (n.6104-2A>G) c.5147-2A>G (n.5147-2A>G) c.5138-2A>G (n.5138-2A>G) | |
| 5 | g.37049109A>T | CA359508675 | NIPBL | c.6764-2A>T (n.6764-2A>T) c.1-15469A>T (n.1-15469A>T) c.6020-2A>T (n.6020-2A>T) c.6566-2A>T (n.6566-2A>T) c.6383-2A>T (n.6383-2A>T) c.6104-2A>T (n.6104-2A>T) c.5147-2A>T (n.5147-2A>T) c.5138-2A>T (n.5138-2A>T) | |
| 5 | g.37049110G>A | CA359508676 | NIPBL | c.6764-1G>A (n.6764-1G>A) c.1-15468G>A (n.1-15468G>A) c.6020-1G>A (n.6020-1G>A) c.6566-1G>A (n.6566-1G>A) c.6383-1G>A (n.6383-1G>A) c.6104-1G>A (n.6104-1G>A) c.5147-1G>A (n.5147-1G>A) c.5138-1G>A (n.5138-1G>A) | |
| 5 | g.37049110G>C | CA359508677 | NIPBL | c.6764-1G>C (n.6764-1G>C) c.1-15468G>C (n.1-15468G>C) c.6020-1G>C (n.6020-1G>C) c.6566-1G>C (n.6566-1G>C) c.6383-1G>C (n.6383-1G>C) c.6104-1G>C (n.6104-1G>C) c.5147-1G>C (n.5147-1G>C) c.5138-1G>C (n.5138-1G>C) | |
| 5 | g.37049110G>T | CA359508678 | NIPBL | c.6764-1G>T (n.6764-1G>T) c.1-15468G>T (n.1-15468G>T) c.6020-1G>T (n.6020-1G>T) c.6566-1G>T (n.6566-1G>T) c.6383-1G>T (n.6383-1G>T) c.6104-1G>T (n.6104-1G>T) c.5147-1G>T (n.5147-1G>T) c.5138-1G>T (n.5138-1G>T) | gnomAD v4 |
| 5 | g.37049111G>A | CA359508679 | NIPBL | c.6764G>A (p.Trp2255Ter) c.1-15467G>A (n.1-15467G>A) c.6020G>A (p.Trp2007Ter) c.6566G>A (p.Trp2189Ter) c.6383G>A (p.Trp2128Ter) c.6104G>A (p.Trp2035Ter) c.5147G>A (p.Trp1716Ter) c.5138G>A (p.Trp1713Ter) | |
| 5 | g.37049111G>C | CA359508680 | NIPBL | c.6764G>C (p.Trp2255Ser) c.1-15467G>C (n.1-15467G>C) c.6020G>C (p.Trp2007Ser) c.6566G>C (p.Trp2189Ser) c.6383G>C (p.Trp2128Ser) c.6104G>C (p.Trp2035Ser) c.5147G>C (p.Trp1716Ser) c.5138G>C (p.Trp1713Ser) | |
| 5 | g.37049111G>T | CA359508681 | NIPBL | c.6764G>T (p.Trp2255Leu) c.1-15467G>T (n.1-15467G>T) c.6020G>T (p.Trp2007Leu) c.6566G>T (p.Trp2189Leu) c.6383G>T (p.Trp2128Leu) c.6104G>T (p.Trp2035Leu) c.5147G>T (p.Trp1716Leu) c.5138G>T (p.Trp1713Leu) | |
| 5 | g.37049112G>A | CA359508682 | NIPBL | c.6765G>A (p.Trp2255Ter) c.1-15466G>A (n.1-15466G>A) c.6021G>A (p.Trp2007Ter) c.6567G>A (p.Trp2189Ter) c.6384G>A (p.Trp2128Ter) c.6105G>A (p.Trp2035Ter) c.5148G>A (p.Trp1716Ter) c.5139G>A (p.Trp1713Ter) | |
| 5 | g.37049112G>C | CA359508683 | NIPBL | c.6765G>C (p.Trp2255Cys) c.1-15466G>C (n.1-15466G>C) c.6021G>C (p.Trp2007Cys) c.6567G>C (p.Trp2189Cys) c.6384G>C (p.Trp2128Cys) c.6105G>C (p.Trp2035Cys) c.5148G>C (p.Trp1716Cys) c.5139G>C (p.Trp1713Cys) | |
| 5 | g.37049112G>T | CA359508684 | NIPBL | c.6765G>T (p.Trp2255Cys) c.1-15466G>T (n.1-15466G>T) c.6021G>T (p.Trp2007Cys) c.6567G>T (p.Trp2189Cys) c.6384G>T (p.Trp2128Cys) c.6105G>T (p.Trp2035Cys) c.5148G>T (p.Trp1716Cys) c.5139G>T (p.Trp1713Cys) | |
| 5 | g.37049113A>C | CA359508686 | NIPBL | c.6766A>C (p.Lys2256Gln) c.1-15465A>C (n.1-15465A>C) c.6022A>C (p.Lys2008Gln) c.6568A>C (p.Lys2190Gln) c.6385A>C (p.Lys2129Gln) c.6106A>C (p.Lys2036Gln) c.5149A>C (p.Lys1717Gln) c.5140A>C (p.Lys1714Gln) | |
| 5 | g.37049113A>G | CA359508687 | NIPBL | c.6766A>G (p.Lys2256Glu) c.1-15465A>G (n.1-15465A>G) c.6022A>G (p.Lys2008Glu) c.6568A>G (p.Lys2190Glu) c.6385A>G (p.Lys2129Glu) c.6106A>G (p.Lys2036Glu) c.5149A>G (p.Lys1717Glu) c.5140A>G (p.Lys1714Glu) | |
| 5 | g.37049113A>T | CA359508685 | NIPBL | c.6766A>T (p.Lys2256Ter) c.1-15465A>T (n.1-15465A>T) c.6022A>T (p.Lys2008Ter) c.6568A>T (p.Lys2190Ter) c.6385A>T (p.Lys2129Ter) c.6106A>T (p.Lys2036Ter) c.5149A>T (p.Lys1717Ter) c.5140A>T (p.Lys1714Ter) | |
| 5 | g.37049114A>C | CA359508688 | NIPBL | c.6767A>C (p.Lys2256Thr) c.1-15464A>C (n.1-15464A>C) c.6023A>C (p.Lys2008Thr) c.6569A>C (p.Lys2190Thr) c.6386A>C (p.Lys2129Thr) c.6107A>C (p.Lys2036Thr) c.5150A>C (p.Lys1717Thr) c.5141A>C (p.Lys1714Thr) | |
| 5 | g.37049114A>G | CA359508689 | NIPBL | c.6767A>G (p.Lys2256Arg) c.1-15464A>G (n.1-15464A>G) c.6023A>G (p.Lys2008Arg) c.6569A>G (p.Lys2190Arg) c.6386A>G (p.Lys2129Arg) c.6107A>G (p.Lys2036Arg) c.5150A>G (p.Lys1717Arg) c.5141A>G (p.Lys1714Arg) | gnomAD v4 |
| 5 | g.37049114A>T | CA359508690 | NIPBL | c.6767A>T (p.Lys2256Met) c.1-15464A>T (n.1-15464A>T) c.6023A>T (p.Lys2008Met) c.6569A>T (p.Lys2190Met) c.6386A>T (p.Lys2129Met) c.6107A>T (p.Lys2036Met) c.5150A>T (p.Lys1717Met) c.5141A>T (p.Lys1714Met) | |
| 5 | g.37049115G>A | CA443907705 | NIPBL | c.6768G>A (p.Lys2256=) c.1-15463G>A (n.1-15463G>A) c.6024G>A (p.Lys2008=) c.6570G>A (p.Lys2190=) c.6387G>A (p.Lys2129=) c.6108G>A (p.Lys2036=) c.5151G>A (p.Lys1717=) c.5142G>A (p.Lys1714=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049115G>C | CA359508691 | NIPBL | c.6768G>C (p.Lys2256Asn) c.1-15463G>C (n.1-15463G>C) c.6024G>C (p.Lys2008Asn) c.6570G>C (p.Lys2190Asn) c.6387G>C (p.Lys2129Asn) c.6108G>C (p.Lys2036Asn) c.5151G>C (p.Lys1717Asn) c.5142G>C (p.Lys1714Asn) | |
| 5 | g.37049115G= | CA1539568313 | NIPBL | c.6768G= (p.Lys2256=) c.1-15463G= (n.1-15463G=) c.6024G= (p.Lys2008=) c.6570G= (p.Lys2190=) c.6387G= (p.Lys2129=) c.6108G= (p.Lys2036=) c.5151G= (p.Lys1717=) c.5142G= (p.Lys1714=) | |
| 5 | g.37049115G>T | CA359508692 | NIPBL | c.6768G>T (p.Lys2256Asn) c.1-15463G>T (n.1-15463G>T) c.6024G>T (p.Lys2008Asn) c.6570G>T (p.Lys2190Asn) c.6387G>T (p.Lys2129Asn) c.6108G>T (p.Lys2036Asn) c.5151G>T (p.Lys1717Asn) c.5142G>T (p.Lys1714Asn) | |
| 5 | g.37049116A= | CA1539568319 | NIPBL | c.6769A= (p.Lys2257=) c.1-15462A= (n.1-15462A=) c.6025A= (p.Lys2009=) c.6571A= (p.Lys2191=) c.6388A= (p.Lys2130=) c.6109A= (p.Lys2037=) c.5152A= (p.Lys1718=) c.5143A= (p.Lys1715=) | |
| 5 | g.37049116A>C | CA117049198 | NIPBL | c.6769A>C (p.Lys2257Gln) c.1-15462A>C (n.1-15462A>C) c.6025A>C (p.Lys2009Gln) c.6571A>C (p.Lys2191Gln) c.6388A>C (p.Lys2130Gln) c.6109A>C (p.Lys2037Gln) c.5152A>C (p.Lys1718Gln) c.5143A>C (p.Lys1715Gln) | dbSNP |
| 5 | g.37049116A>G | CA359508693 | NIPBL | c.6769A>G (p.Lys2257Glu) c.1-15462A>G (n.1-15462A>G) c.6025A>G (p.Lys2009Glu) c.6571A>G (p.Lys2191Glu) c.6388A>G (p.Lys2130Glu) c.6109A>G (p.Lys2037Glu) c.5152A>G (p.Lys1718Glu) c.5143A>G (p.Lys1715Glu) | ClinVar dbSNP |
| 5 | g.37049116A>T | CA359508694 | NIPBL | c.6769A>T (p.Lys2257Ter) c.1-15462A>T (n.1-15462A>T) c.6025A>T (p.Lys2009Ter) c.6571A>T (p.Lys2191Ter) c.6388A>T (p.Lys2130Ter) c.6109A>T (p.Lys2037Ter) c.5152A>T (p.Lys1718Ter) c.5143A>T (p.Lys1715Ter) | |
| 5 | g.37049117A>C | CA359508695 | NIPBL | c.6770A>C (p.Lys2257Thr) c.1-15461A>C (n.1-15461A>C) c.6026A>C (p.Lys2009Thr) c.6572A>C (p.Lys2191Thr) c.6389A>C (p.Lys2130Thr) c.6110A>C (p.Lys2037Thr) c.5153A>C (p.Lys1718Thr) c.5144A>C (p.Lys1715Thr) | |
| 5 | g.37049117A>G | CA359508696 | NIPBL | c.6770A>G (p.Lys2257Arg) c.1-15461A>G (n.1-15461A>G) c.6026A>G (p.Lys2009Arg) c.6572A>G (p.Lys2191Arg) c.6389A>G (p.Lys2130Arg) c.6110A>G (p.Lys2037Arg) c.5153A>G (p.Lys1718Arg) c.5144A>G (p.Lys1715Arg) | |
| 5 | g.37049117A>T | CA359508697 | NIPBL | c.6770A>T (p.Lys2257Ile) c.1-15461A>T (n.1-15461A>T) c.6026A>T (p.Lys2009Ile) c.6572A>T (p.Lys2191Ile) c.6389A>T (p.Lys2130Ile) c.6110A>T (p.Lys2037Ile) c.5153A>T (p.Lys1718Ile) c.5144A>T (p.Lys1715Ile) | |
| 5 | g.37049118A>C | CA359508698 | NIPBL | c.6771A>C (p.Lys2257Asn) c.1-15460A>C (n.1-15460A>C) c.6027A>C (p.Lys2009Asn) c.6573A>C (p.Lys2191Asn) c.6390A>C (p.Lys2130Asn) c.6111A>C (p.Lys2037Asn) c.5154A>C (p.Lys1718Asn) c.5145A>C (p.Lys1715Asn) | |
| 5 | g.37049118A>G | CA443907718 | NIPBL | c.6771A>G (p.Lys2257=) c.1-15460A>G (n.1-15460A>G) c.6027A>G (p.Lys2009=) c.6573A>G (p.Lys2191=) c.6390A>G (p.Lys2130=) c.6111A>G (p.Lys2037=) c.5154A>G (p.Lys1718=) c.5145A>G (p.Lys1715=) | |
| 5 | g.37049118A>T | CA359508699 | NIPBL | c.6771A>T (p.Lys2257Asn) c.1-15460A>T (n.1-15460A>T) c.6027A>T (p.Lys2009Asn) c.6573A>T (p.Lys2191Asn) c.6390A>T (p.Lys2130Asn) c.6111A>T (p.Lys2037Asn) c.5154A>T (p.Lys1718Asn) c.5145A>T (p.Lys1715Asn) | COSMIC COSMIC |
| 5 | g.37049119G>A | CA359508700 | NIPBL | c.6772G>A (p.Val2258Ile) c.1-15459G>A (n.1-15459G>A) c.6028G>A (p.Val2010Ile) c.6574G>A (p.Val2192Ile) c.6391G>A (p.Val2131Ile) c.6112G>A (p.Val2038Ile) c.5155G>A (p.Val1719Ile) c.5146G>A (p.Val1716Ile) | |
| 5 | g.37049119G>C | CA359508702 | NIPBL | c.6772G>C (p.Val2258Leu) c.1-15459G>C (n.1-15459G>C) c.6028G>C (p.Val2010Leu) c.6574G>C (p.Val2192Leu) c.6391G>C (p.Val2131Leu) c.6112G>C (p.Val2038Leu) c.5155G>C (p.Val1719Leu) c.5146G>C (p.Val1716Leu) | dbSNP |
| 5 | g.37049119G= | CA1539568331 | NIPBL | c.6772G= (p.Val2258=) c.1-15459G= (n.1-15459G=) c.6028G= (p.Val2010=) c.6574G= (p.Val2192=) c.6391G= (p.Val2131=) c.6112G= (p.Val2038=) c.5155G= (p.Val1719=) c.5146G= (p.Val1716=) | |
| 5 | g.37049119G>T | CA359508701 | NIPBL | c.6772G>T (p.Val2258Phe) c.1-15459G>T (n.1-15459G>T) c.6028G>T (p.Val2010Phe) c.6574G>T (p.Val2192Phe) c.6391G>T (p.Val2131Phe) c.6112G>T (p.Val2038Phe) c.5155G>T (p.Val1719Phe) c.5146G>T (p.Val1716Phe) | |
| 5 | g.37049120T>A | CA359508703 | NIPBL | c.6773T>A (p.Val2258Asp) c.1-15458T>A (n.1-15458T>A) c.6029T>A (p.Val2010Asp) c.6575T>A (p.Val2192Asp) c.6392T>A (p.Val2131Asp) c.6113T>A (p.Val2038Asp) c.5156T>A (p.Val1719Asp) c.5147T>A (p.Val1716Asp) | |
| 5 | g.37049120T>C | CA359508705 | NIPBL | c.6773T>C (p.Val2258Ala) c.1-15458T>C (n.1-15458T>C) c.6029T>C (p.Val2010Ala) c.6575T>C (p.Val2192Ala) c.6392T>C (p.Val2131Ala) c.6113T>C (p.Val2038Ala) c.5156T>C (p.Val1719Ala) c.5147T>C (p.Val1716Ala) | |
| 5 | g.37049120T>G | CA359508704 | NIPBL | c.6773T>G (p.Val2258Gly) c.1-15458T>G (n.1-15458T>G) c.6029T>G (p.Val2010Gly) c.6575T>G (p.Val2192Gly) c.6392T>G (p.Val2131Gly) c.6113T>G (p.Val2038Gly) c.5156T>G (p.Val1719Gly) c.5147T>G (p.Val1716Gly) | |
| 5 | g.37049121T>A | CA443907730 | NIPBL | c.6774T>A (p.Val2258=) c.1-15457T>A (n.1-15457T>A) c.6030T>A (p.Val2010=) c.6576T>A (p.Val2192=) c.6393T>A (p.Val2131=) c.6114T>A (p.Val2038=) c.5157T>A (p.Val1719=) c.5148T>A (p.Val1716=) | |
| 5 | g.37049121T>C | CA443907732 | NIPBL | c.6774T>C (p.Val2258=) c.1-15457T>C (n.1-15457T>C) c.6030T>C (p.Val2010=) c.6576T>C (p.Val2192=) c.6393T>C (p.Val2131=) c.6114T>C (p.Val2038=) c.5157T>C (p.Val1719=) c.5148T>C (p.Val1716=) | |
| 5 | g.37049121T>G | CA443907733 | NIPBL | c.6774T>G (p.Val2258=) c.1-15457T>G (n.1-15457T>G) c.6030T>G (p.Val2010=) c.6576T>G (p.Val2192=) c.6393T>G (p.Val2131=) c.6114T>G (p.Val2038=) c.5157T>G (p.Val1719=) c.5148T>G (p.Val1716=) |