Linked Data
dbSNP Id:
rs1465452953
gnomAD v2:
1-154544183-C-CTATTA
gnomAD v4:
1-154571707-C-CTATTA
MyVariant Identifiers:
chr1:g.154544183_154544184insTATTA (hg19)
chr1:g.154571707_154571708insTATTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571707_154571708insTATTA , CM000663.2:g.154571707_154571708insTATTA | GRCh38 |
| NC_000001.10:g.154544183_154544184insTATTA , CM000663.1:g.154544183_154544184insTATTA | GRCh37 |
| NC_000001.9:g.152810807_152810808insTATTA | NCBI36 |
| NG_008027.1:g.8927_8928insTATTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.884_885insTATTA MANE Select | ENSP00000357461.3:p.Leu296IlefsTer? | |
| ENST00000636034.1:c.884_885insTATTA | ENSP00000489703.1:p.Leu296IlefsTer? | |
| ENST00000637900.1:c.890_891insTATTA | ENSP00000490474.1:p.Leu298IlefsTer? | |
| ENST00000368476.3:c.884_885insTATTA | ENSP00000357461.3:p.Leu296IlefsTer? | |
| NM_000748.2:c.884_885insTATTA | NP_000739.1:p.Leu296IlefsTer? | |
| XM_017000180.2:c.374_375insTATTA | XP_016855669.1:p.Leu126IlefsTer? | |
| XR_001736952.2:n.1136_1137insTATTA | ||
| NM_000748.3:c.884_885insTATTA MANE Select | NP_000739.1:p.Leu296IlefsTer? |