Linked Data
gnomAD v2:
1-154544178-C-CACA
gnomAD v4:
1-154571702-C-CACA
MyVariant Identifiers:
chr1:g.154544179_154544180delinsACAGT (hg19)
chr1:g.154571703_154571704delinsACAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571702_154571703insACA , CM000663.2:g.154571702_154571703insACA | GRCh38 |
| NC_000001.10:g.154544178_154544179insACA , CM000663.1:g.154544178_154544179insACA | GRCh37 |
| NC_000001.9:g.152810802_152810803insACA | NCBI36 |
| NG_008027.1:g.8922_8923insACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.879_880insACA MANE Select | ENSP00000357461.3:p.Asp293_Val294insThr | |
| ENST00000636034.1:c.879_880insACA | ENSP00000489703.1:p.Asp293_Val294insThr | |
| ENST00000637900.1:c.885_886insACA | ENSP00000490474.1:p.Asp295_Val296insThr | |
| ENST00000368476.3:c.879_880insACA | ENSP00000357461.3:p.Asp293_Val294insThr | |
| NM_000748.2:c.879_880insACA | NP_000739.1:p.Asp293_Val294insThr | |
| XM_017000180.2:c.369_370insACA | XP_016855669.1:p.Asp123_Val124insThr | |
| XR_001736952.2:n.1131_1132insACA | ||
| NM_000748.3:c.879_880insACA MANE Select | NP_000739.1:p.Asp293_Val294insThr |