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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.[19349939A>T;19349942T>C;19349946C>T;19349985C>T;19350003C>T] , CM000685.2:g.[19349939A>T;19349942T>C;19349946C>T;19349985C>T;19350003C>T] | GRCh38 |
| NC_000023.10:g.[19368057A>T;19368060T>C;19368064C>T;19368103C>T;19368121C>T] , CM000685.1:g.[19368057A>T;19368060T>C;19368064C>T;19368103C>T;19368121C>T] | GRCh37 |
| NC_000023.9:g.[19277978A>T;19277981T>C;19277985C>T;19278024C>T;19278042C>T] | NCBI36 |
| NG_016781.1:g.[11047A>T;11050T>C;11054C>T;11093C>T;11111C>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | ENSP00000348062.6:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62P... | |
| ENST00000379805.4:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | ENSP00000369133.3:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62P... | |
| ENST00000417819.6:c.[204A>T;207T>C;211C>T;250C>T;268C>T] | ENSP00000404616.2:p.[Lys68Asn;Cys69=;Leu71Phe;Leu84Phe;Leu90P... | |
| ENST00000423505.6:c.[234A>T;237T>C;241C>T;280C>T;298C>T] | ENSP00000406473.2:p.[Lys78Asn;Cys79=;Leu81Phe;Leu94Phe;Leu100... | |
| ENST00000696704.1:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | ENSP00000512823.1:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62P... | |
| ENST00000696705.1:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | ENSP00000512824.1:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62P... | |
| ENST00000422285.7:c.[120A>T;123T>C;127C>T;166C>T;184C>T] MANE Select | ENSP00000394382.2:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62P... | |
| ENST00000355808.9:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | ENSP00000348062.5:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62P... | |
| ENST00000379805.3:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | ENSP00000369133.3:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62P... | |
| ENST00000379806.9:c.[234A>T;237T>C;241C>T;280C>T;298C>T] | ENSP00000369134.5:p.[Lys78Asn;Cys79=;Leu81Phe;Leu94Phe;Leu100... | |
| ENST00000417819.5:c.[204A>T;207T>C;211C>T;250C>T;268C>T] | ENSP00000404616.1:p.[Lys68Asn;Cys69=;Leu71Phe;Leu84Phe;Leu90P... | |
| ENST00000422285.6:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | ENSP00000394382.2:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62P... | |
| ENST00000423505.5:c.[234A>T;237T>C;241C>T;280C>T;298C>T] | ENSP00000406473.1:p.[Lys78Asn;Cys79=;Leu81Phe;Leu94Phe;Leu100... | |
| ENST00000492364.1:n.[222A>T;225T>C;229C>T;268C>T;286C>T] | ||
| ENST00000540249.5:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | ENSP00000440761.1:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62P... | |
| ENST00000545074.5:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | ENSP00000438550.1:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62P... | |
| NM_000284.3:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | NP_000275.1:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62Phe] | |
| NM_001173454.1:c.[234A>T;237T>C;241C>T;280C>T;298C>T] | NP_001166925.1:p.[Lys78Asn;Cys79=;Leu81Phe;Leu94Phe;Leu100Phe... | |
| NM_001173455.1:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | NP_001166926.1:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62Phe]... | |
| NM_001173456.1:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | NP_001166927.1:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62Phe]... | |
| XM_011545531.1:c.[234A>T;237T>C;241C>T;280C>T;298C>T] | XP_011543833.1:p.[Lys78Asn;Cys79=;Leu81Phe;Leu94Phe;Leu100Phe... | |
| XM_011545532.1:c.[234A>T;237T>C;241C>T;280C>T;298C>T] | XP_011543834.1:p.[Lys78Asn;Cys79=;Leu81Phe;Leu94Phe;Leu100Phe... | |
| XM_017029574.2:c.[234A>T;237T>C;241C>T;280C>T;298C>T] | XP_016885063.1:p.[Lys78Asn;Cys79=;Leu81Phe;Leu94Phe;Leu100Phe... | |
| NM_000284.4:c.[120A>T;123T>C;127C>T;166C>T;184C>T] MANE Select | NP_000275.1:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62Phe] | |
| NM_001173454.2:c.[234A>T;237T>C;241C>T;280C>T;298C>T] | NP_001166925.1:p.[Lys78Asn;Cys79=;Leu81Phe;Leu94Phe;Leu100Phe... | |
| NM_001173455.2:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | NP_001166926.1:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62Phe]... | |
| NM_001173456.2:c.[120A>T;123T>C;127C>T;166C>T;184C>T] | NP_001166927.1:p.[Lys40Asn;Cys41=;Leu43Phe;Leu56Phe;Leu62Phe]... |