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 |
|---|---|---|---|---|---|
| 6 | g.129402466_129402473delinsACTCATCT | CA1663131739 | LAMA2 | c.5705_5712delinsACTCATCT (p.Asp1902=) c.5969_5976delinsACTCATCT (p.Asp1990=) c.5975_5982delinsACTCATCT (p.Asp1992=) c.4100_4107delinsACTCATCT (p.Asp1367=) | |
| 6 | g.129402467C>A | CA365616578 | LAMA2 | c.5706C>A (p.Asp1902Glu) c.5970C>A (p.Asp1990Glu) c.5976C>A (p.Asp1992Glu) c.4101C>A (p.Asp1367Glu) | dbSNP |
| 6 | g.129402467C= | CA1663131743 | LAMA2 | c.5706C= (p.Asp1902=) c.5970C= (p.Asp1990=) c.5976C= (p.Asp1992=) c.4101C= (p.Asp1367=) | |
| 6 | g.129402467C>G | CA365616593 | LAMA2 | c.5706C>G (p.Asp1902Glu) c.5970C>G (p.Asp1990Glu) c.5976C>G (p.Asp1992Glu) c.4101C>G (p.Asp1367Glu) | |
| 6 | g.129402467C>T | CA451926417 | LAMA2 | c.5706C>T (p.Asp1902=) c.5970C>T (p.Asp1990=) c.5976C>T (p.Asp1992=) c.4101C>T (p.Asp1367=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129402467_129402473del | CA220775 | LAMA2 | c.5706_5712del (p.Asp1902GlufsTer?) c.5970_5976del (p.Asp1990GlufsTer?) c.5976_5982del (p.Asp1992GlufsTer?) c.4101_4107del (p.Asp1367GlufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129402468T>A | CA365616596 | LAMA2 | c.5707T>A (p.Ser1903Thr) c.5971T>A (p.Ser1991Thr) c.5977T>A (p.Ser1993Thr) c.4102T>A (p.Ser1368Thr) | |
| 6 | g.129402468T>C | CA365616600 | LAMA2 | c.5707T>C (p.Ser1903Pro) c.5971T>C (p.Ser1991Pro) c.5977T>C (p.Ser1993Pro) c.4102T>C (p.Ser1368Pro) | |
| 6 | g.129402468T>G | CA365616598 | LAMA2 | c.5707T>G (p.Ser1903Ala) c.5971T>G (p.Ser1991Ala) c.5977T>G (p.Ser1993Ala) c.4102T>G (p.Ser1368Ala) | |
| 6 | g.129402469C>A | CA365616601 | LAMA2 | c.5708C>A (p.Ser1903Ter) c.5972C>A (p.Ser1991Ter) c.5978C>A (p.Ser1993Ter) c.4103C>A (p.Ser1368Ter) | |
| 6 | g.129402469C>G | CA365616604 | LAMA2 | c.5708C>G (p.Ser1903Ter) c.5972C>G (p.Ser1991Ter) c.5978C>G (p.Ser1993Ter) c.4103C>G (p.Ser1368Ter) | |
| 6 | g.129402469C>T | CA365616602 | LAMA2 | c.5708C>T (p.Ser1903Leu) c.5972C>T (p.Ser1991Leu) c.5978C>T (p.Ser1993Leu) c.4103C>T (p.Ser1368Leu) | |
| 6 | g.129402470A>C | CA451926419 | LAMA2 | c.5709A>C (p.Ser1903=) c.5973A>C (p.Ser1991=) c.5979A>C (p.Ser1993=) c.4104A>C (p.Ser1368=) | |
| 6 | g.129402470A>G | CA451926420 | LAMA2 | c.5709A>G (p.Ser1903=) c.5973A>G (p.Ser1991=) c.5979A>G (p.Ser1993=) c.4104A>G (p.Ser1368=) | |
| 6 | g.129402470A>T | CA451926421 | LAMA2 | c.5709A>T (p.Ser1903=) c.5973A>T (p.Ser1991=) c.5979A>T (p.Ser1993=) c.4104A>T (p.Ser1368=) | |
| 6 | g.129402471T>A | CA365616607 | LAMA2 | c.5710T>A (p.Ser1904Thr) c.5974T>A (p.Ser1992Thr) c.5980T>A (p.Ser1994Thr) c.4105T>A (p.Ser1369Thr) | |
| 6 | g.129402471T>C | CA146891610 | LAMA2 | c.5710T>C (p.Ser1904Pro) c.5974T>C (p.Ser1992Pro) c.5980T>C (p.Ser1994Pro) c.4105T>C (p.Ser1369Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129402471T>G | CA365616609 | LAMA2 | c.5710T>G (p.Ser1904Ala) c.5974T>G (p.Ser1992Ala) c.5980T>G (p.Ser1994Ala) c.4105T>G (p.Ser1369Ala) | |
| 6 | g.129402471T= | CA1663131747 | LAMA2 | c.5710T= (p.Ser1904=) c.5974T= (p.Ser1992=) c.5980T= (p.Ser1994=) c.4105T= (p.Ser1369=) | |
| 6 | g.129402472C>A | CA365616614 | LAMA2 | c.5711C>A (p.Ser1904Tyr) c.5975C>A (p.Ser1992Tyr) c.5981C>A (p.Ser1994Tyr) c.4106C>A (p.Ser1369Tyr) | |
| 6 | g.129402472C>G | CA365616618 | LAMA2 | c.5711C>G (p.Ser1904Cys) c.5975C>G (p.Ser1992Cys) c.5981C>G (p.Ser1994Cys) c.4106C>G (p.Ser1369Cys) | |
| 6 | g.129402472C>T | CA365616616 | LAMA2 | c.5711C>T (p.Ser1904Phe) c.5975C>T (p.Ser1992Phe) c.5981C>T (p.Ser1994Phe) c.4106C>T (p.Ser1369Phe) | |
| 6 | g.129402473T>A | CA451926426 | LAMA2 | c.5712T>A (p.Ser1904=) c.5976T>A (p.Ser1992=) c.5982T>A (p.Ser1994=) c.4107T>A (p.Ser1369=) | |
| 6 | g.129402473T>C | CA451926425 | LAMA2 | c.5712T>C (p.Ser1904=) c.5976T>C (p.Ser1992=) c.5982T>C (p.Ser1994=) c.4107T>C (p.Ser1369=) | |
| 6 | g.129402473T>G | CA451926424 | LAMA2 | c.5712T>G (p.Ser1904=) c.5976T>G (p.Ser1992=) c.5982T>G (p.Ser1994=) c.4107T>G (p.Ser1369=) | |
| 6 | g.129402474G>A | CA365616620 | LAMA2 | c.5713G>A (p.Ala1905Thr) c.5977G>A (p.Ala1993Thr) c.5983G>A (p.Ala1995Thr) c.4108G>A (p.Ala1370Thr) | |
| 6 | g.129402474G>C | CA365616622 | LAMA2 | c.5713G>C (p.Ala1905Pro) c.5977G>C (p.Ala1993Pro) c.5983G>C (p.Ala1995Pro) c.4108G>C (p.Ala1370Pro) | |
| 6 | g.129402474G>T | CA365616624 | LAMA2 | c.5713G>T (p.Ala1905Ser) c.5977G>T (p.Ala1993Ser) c.5983G>T (p.Ala1995Ser) c.4108G>T (p.Ala1370Ser) | |
| 6 | g.129402475C>A | CA365616626 | LAMA2 | c.5714C>A (p.Ala1905Asp) c.5978C>A (p.Ala1993Asp) c.5984C>A (p.Ala1995Asp) c.4109C>A (p.Ala1370Asp) | |
| 6 | g.129402475C>G | CA365616628 | LAMA2 | c.5714C>G (p.Ala1905Gly) c.5978C>G (p.Ala1993Gly) c.5984C>G (p.Ala1995Gly) c.4109C>G (p.Ala1370Gly) | |
| 6 | g.129402475C>T | CA365616629 | LAMA2 | c.5714C>T (p.Ala1905Val) c.5978C>T (p.Ala1993Val) c.5984C>T (p.Ala1995Val) c.4109C>T (p.Ala1370Val) | |
| 6 | g.129402476T>A | CA451926428 | LAMA2 | c.5715T>A (p.Ala1905=) c.5979T>A (p.Ala1993=) c.5985T>A (p.Ala1995=) c.4110T>A (p.Ala1370=) | |
| 6 | g.129402476T>C | CA451926429 | LAMA2 | c.5715T>C (p.Ala1905=) c.5979T>C (p.Ala1993=) c.5985T>C (p.Ala1995=) c.4110T>C (p.Ala1370=) | ClinVar |
| 6 | g.129402476T>G | CA451926431 | LAMA2 | c.5715T>G (p.Ala1905=) c.5979T>G (p.Ala1993=) c.5985T>G (p.Ala1995=) c.4110T>G (p.Ala1370=) | |
| 6 | g.129402477G>A | CA365616630 | LAMA2 | c.5716G>A (p.Val1906Ile) c.5980G>A (p.Val1994Ile) c.5986G>A (p.Val1996Ile) c.4111G>A (p.Val1371Ile) | gnomAD v4 |
| 6 | g.129402477G>C | CA365616631 | LAMA2 | c.5716G>C (p.Val1906Leu) c.5980G>C (p.Val1994Leu) c.5986G>C (p.Val1996Leu) c.4111G>C (p.Val1371Leu) | |
| 6 | g.129402477G>T | CA365616633 | LAMA2 | c.5716G>T (p.Val1906Phe) c.5980G>T (p.Val1994Phe) c.5986G>T (p.Val1996Phe) c.4111G>T (p.Val1371Phe) | |
| 6 | g.129402478T>A | CA365616636 | LAMA2 | c.5717T>A (p.Val1906Asp) c.5981T>A (p.Val1994Asp) c.5987T>A (p.Val1996Asp) c.4112T>A (p.Val1371Asp) | |
| 6 | g.129402478T>C | CA365616637 | LAMA2 | c.5717T>C (p.Val1906Ala) c.5981T>C (p.Val1994Ala) c.5987T>C (p.Val1996Ala) c.4112T>C (p.Val1371Ala) | |
| 6 | g.129402478T>G | CA365616640 | LAMA2 | c.5717T>G (p.Val1906Gly) c.5981T>G (p.Val1994Gly) c.5987T>G (p.Val1996Gly) c.4112T>G (p.Val1371Gly) | |
| 6 | g.129402479C>A | CA451926434 | LAMA2 | c.5718C>A (p.Val1906=) c.5982C>A (p.Val1994=) c.5988C>A (p.Val1996=) c.4113C>A (p.Val1371=) | COSMIC |
| 6 | g.129402479C>G | CA451926436 | LAMA2 | c.5718C>G (p.Val1906=) c.5982C>G (p.Val1994=) c.5988C>G (p.Val1996=) c.4113C>G (p.Val1371=) | gnomAD v4 |
| 6 | g.129402479C>T | CA451926435 | LAMA2 | c.5718C>T (p.Val1906=) c.5982C>T (p.Val1994=) c.5988C>T (p.Val1996=) c.4113C>T (p.Val1371=) | |
| 6 | g.129402480C>A | CA365616642 | LAMA2 | c.5719C>A (p.Leu1907Ile) c.5983C>A (p.Leu1995Ile) c.5989C>A (p.Leu1997Ile) c.4114C>A (p.Leu1372Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129402480C= | CA1663131750 | LAMA2 | c.5719C= (p.Leu1907=) c.5983C= (p.Leu1995=) c.5989C= (p.Leu1997=) c.4114C= (p.Leu1372=) | |
| 6 | g.129402480C>G | CA365616645 | LAMA2 | c.5719C>G (p.Leu1907Val) c.5983C>G (p.Leu1995Val) c.5989C>G (p.Leu1997Val) c.4114C>G (p.Leu1372Val) | |
| 6 | g.129402480C>T | CA365616644 | LAMA2 | c.5719C>T (p.Leu1907Phe) c.5983C>T (p.Leu1995Phe) c.5989C>T (p.Leu1997Phe) c.4114C>T (p.Leu1372Phe) | gnomAD v4 |
| 6 | g.129402481T>A | CA365616647 | LAMA2 | c.5720T>A (p.Leu1907His) c.5984T>A (p.Leu1995His) c.5990T>A (p.Leu1997His) c.4115T>A (p.Leu1372His) | |
| 6 | g.129402481T>C | CA365616648 | LAMA2 | c.5720T>C (p.Leu1907Pro) c.5984T>C (p.Leu1995Pro) c.5990T>C (p.Leu1997Pro) c.4115T>C (p.Leu1372Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129402481T>G | CA365616654 | LAMA2 | c.5720T>G (p.Leu1907Arg) c.5984T>G (p.Leu1995Arg) c.5990T>G (p.Leu1997Arg) c.4115T>G (p.Leu1372Arg) |