Linked Data
dbSNP Id:
rs781786746
ExAC:
X:37642852 C / CTATATAAT
MyVariant Identifiers:
chrX:g.37642852_37642853insTATATAAT (hg19)
chrX:g.37783599_37783600insTATATAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37783599_37783600insTATATAAT , CM000685.2:g.37783599_37783600insTATATAAT | GRCh38 |
| NC_000023.10:g.37642852_37642853insTATATAAT , CM000685.1:g.37642852_37642853insTATATAAT | GRCh37 |
| NC_000023.9:g.37527796_37527797insTATATAAT | NCBI36 |
| NG_009065.1:g.8583_8584insTATATAAT , LRG_53:g.8583_8584insTATATAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.251_252insTATATAAT | ENSP00000512461.1:p.Cys85IlefsTer2 | |
| ENST00000696171.1:c.155_156insTATATAAT | ENSP00000512462.1:p.Cys53IlefsTer2 | |
| ENST00000696172.1:c.251_252insTATATAAT | ENSP00000512463.1:p.Cys85IlefsTer2 | |
| ENST00000696173.1:n.259_260insTATATAAT | ||
| ENST00000378588.5:c.251_252insTATATAAT MANE Select | ENSP00000367851.4:p.Cys85IlefsTer2 | |
| ENST00000378588.4:c.251_252insTATATAAT | ENSP00000367851.4:p.Cys85IlefsTer2 | |
| ENST00000465127.1:c.171+357599_171+357600insTATATAAT | ENSP00000417050.1:n.171+357599_171+357600insTATATAAT | |
| NM_000397.3:c.251_252insTATATAAT , LRG_53t1:c.251_252insTATATAAT | NP_000388.2:p.Cys85IlefsTer2 | |
| XM_011543890.1:c.-180_-179insTATATAAT | XP_011542192.1:n.-180_-179insTATATAAT | |
| NM_000397.4:c.251_252insTATATAAT MANE Select | NP_000388.2:p.Cys85IlefsTer2 |