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.149981452del | CA658823315 | SLC26A2 | c.1859del (p.Lys620ArgfsTer6) c.372+3101del (n.372+3101del) | ClinVar dbSNP |
| 5 | g.149981452A= | CA1590738785 | SLC26A2 | c.1859A= (p.Lys620=) c.372+3101A= (n.372+3101A=) | |
| 5 | g.149981452A>C | CA361709108 | SLC26A2 | c.1859A>C (p.Lys620Thr) c.372+3101A>C (n.372+3101A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981452A>G | CA361709110 | SLC26A2 | c.1859A>G (p.Lys620Arg) c.372+3101A>G (n.372+3101A>G) | |
| 5 | g.149981452A>T | CA361709111 | SLC26A2 | c.1859A>T (p.Lys620Met) c.372+3101A>T (n.372+3101A>T) | |
| 5 | g.149981453G>A | CA447402837 | SLC26A2 | c.1860G>A (p.Lys620=) c.372+3102G>A (n.372+3102G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981453G>C | CA361709113 | SLC26A2 | c.1860G>C (p.Lys620Asn) c.372+3102G>C (n.372+3102G>C) | |
| 5 | g.149981453G= | CA1590738786 | SLC26A2 | c.1860G= (p.Lys620=) c.372+3102G= (n.372+3102G=) | |
| 5 | g.149981453G>T | CA361709116 | SLC26A2 | c.1860G>T (p.Lys620Asn) c.372+3102G>T (n.372+3102G>T) | |
| 5 | g.149981454A= | CA1590738787 | SLC26A2 | c.1861A= (p.Ile621=) c.372+3103A= (n.372+3103A=) | |
| 5 | g.149981454A>C | CA361709118 | SLC26A2 | c.1861A>C (p.Ile621Leu) c.372+3103A>C (n.372+3103A>C) | |
| 5 | g.149981454A>G | CA3505508 | SLC26A2 | c.1861A>G (p.Ile621Val) c.372+3103A>G (n.372+3103A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.149981454A>T | CA361709120 | SLC26A2 | c.1861A>T (p.Ile621Phe) c.372+3103A>T (n.372+3103A>T) | |
| 5 | g.149981455T>A | CA361709122 | SLC26A2 | c.1862T>A (p.Ile621Asn) c.372+3104T>A (n.372+3104T>A) | |
| 5 | g.149981455T>C | CA3505509 | SLC26A2 | c.1862T>C (p.Ile621Thr) c.372+3104T>C (n.372+3104T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981455T>G | CA361709124 | SLC26A2 | c.1862T>G (p.Ile621Ser) c.372+3104T>G (n.372+3104T>G) | |
| 5 | g.149981455T= | CA1590738788 | SLC26A2 | c.1862T= (p.Ile621=) c.372+3104T= (n.372+3104T=) | |
| 5 | g.149981456C>A | CA447402841 | SLC26A2 | c.1863C>A (p.Ile621=) c.372+3105C>A (n.372+3105C>A) | |
| 5 | g.149981456C>G | CA361709127 | SLC26A2 | c.1863C>G (p.Ile621Met) c.372+3105C>G (n.372+3105C>G) | COSMIC |
| 5 | g.149981456C>T | CA447402840 | SLC26A2 | c.1863C>T (p.Ile621=) c.372+3105C>T (n.372+3105C>T) | |
| 5 | g.149981457A= | CA1590738789 | SLC26A2 | c.1864A= (p.Lys622=) c.372+3106A= (n.372+3106A=) | |
| 5 | g.149981457A>C | CA361709129 | SLC26A2 | c.1864A>C (p.Lys622Gln) c.372+3106A>C (n.372+3106A>C) | gnomAD v4 |
| 5 | g.149981457A>G | CA361709132 | SLC26A2 | c.1864A>G (p.Lys622Glu) c.372+3106A>G (n.372+3106A>G) | |
| 5 | g.149981457A>T | CA361709131 | SLC26A2 | c.1864A>T (p.Lys622Ter) c.372+3106A>T (n.372+3106A>T) | dbSNP |
| 5 | g.149981458A= | CA1590738790 | SLC26A2 | c.1865A= (p.Lys622=) c.372+3107A= (n.372+3107A=) | |
| 5 | g.149981458A>C | CA361709133 | SLC26A2 | c.1865A>C (p.Lys622Thr) c.372+3107A>C (n.372+3107A>C) | |
| 5 | g.149981458A>G | CA361709135 | SLC26A2 | c.1865A>G (p.Lys622Arg) c.372+3107A>G (n.372+3107A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981458A>T | CA361709137 | SLC26A2 | c.1865A>T (p.Lys622Ile) c.372+3107A>T (n.372+3107A>T) | |
| 5 | g.149981459A>C | CA361709139 | SLC26A2 | c.1866A>C (p.Lys622Asn) c.372+3108A>C (n.372+3108A>C) | |
| 5 | g.149981459A>G | CA447402845 | SLC26A2 | c.1866A>G (p.Lys622=) c.372+3108A>G (n.372+3108A>G) | |
| 5 | g.149981459A>T | CA361709141 | SLC26A2 | c.1866A>T (p.Lys622Asn) c.372+3108A>T (n.372+3108A>T) | |
| 5 | g.149981460G>A | CA361709143 | SLC26A2 | c.1867G>A (p.Glu623Lys) c.372+3109G>A (n.372+3109G>A) | |
| 5 | g.149981460G>C | CA361709145 | SLC26A2 | c.1867G>C (p.Glu623Gln) c.372+3109G>C (n.372+3109G>C) | |
| 5 | g.149981460G>T | CA361709147 | SLC26A2 | c.1867G>T (p.Glu623Ter) c.372+3109G>T (n.372+3109G>T) | |
| 5 | g.149981460dup | CA2675943655 | SLC26A2 | c.1867dup (p.Glu623GlyfsTer12) c.372+3109dup (n.372+3109dup) | gnomAD v4 |
| 5 | g.149981461A>C | CA361709148 | SLC26A2 | c.1868A>C (p.Glu623Ala) c.372+3110A>C (n.372+3110A>C) | |
| 5 | g.149981461A>G | CA361709151 | SLC26A2 | c.1868A>G (p.Glu623Gly) c.372+3110A>G (n.372+3110A>G) | |
| 5 | g.149981461A>T | CA361709153 | SLC26A2 | c.1868A>T (p.Glu623Val) c.372+3110A>T (n.372+3110A>T) | |
| 5 | g.149981462A>C | CA361709155 | SLC26A2 | c.1869A>C (p.Glu623Asp) c.372+3111A>C (n.372+3111A>C) | |
| 5 | g.149981462A>G | CA447402847 | SLC26A2 | c.1869A>G (p.Glu623=) c.372+3111A>G (n.372+3111A>G) | |
| 5 | g.149981462A>T | CA361709157 | SLC26A2 | c.1869A>T (p.Glu623Asp) c.372+3111A>T (n.372+3111A>T) | |
| 5 | g.149981463A>C | CA361709164 | SLC26A2 | c.1870A>C (p.Lys624Gln) c.372+3112A>C (n.372+3112A>C) | |
| 5 | g.149981463A>G | CA361709160 | SLC26A2 | c.1870A>G (p.Lys624Glu) c.372+3112A>G (n.372+3112A>G) | |
| 5 | g.149981463A>T | CA361709162 | SLC26A2 | c.1870A>T (p.Lys624Ter) c.372+3112A>T (n.372+3112A>T) | |
| 5 | g.149981464A>C | CA361709167 | SLC26A2 | c.1871A>C (p.Lys624Thr) c.372+3113A>C (n.372+3113A>C) | |
| 5 | g.149981464A>G | CA361709168 | SLC26A2 | c.1871A>G (p.Lys624Arg) c.372+3113A>G (n.372+3113A>G) | |
| 5 | g.149981464A>T | CA361709170 | SLC26A2 | c.1871A>T (p.Lys624Ile) c.372+3113A>T (n.372+3113A>T) | |
| 5 | g.149981464_149981467delinsAAGT | CA1590738791 | SLC26A2 | c.1871_1874delinsAAGT (p.Lys624=) c.372+3113_372+3116delinsAAGT (n.372+3113_372+3116delinsAAGT) | |
| 5 | g.149981465A>C | CA361709172 | SLC26A2 | c.1872A>C (p.Lys624Asn) c.372+3114A>C (n.372+3114A>C) | gnomAD v4 |
| 5 | g.149981465A>G | CA447402849 | SLC26A2 | c.1872A>G (p.Lys624=) c.372+3114A>G (n.372+3114A>G) | ClinVar dbSNP |