Linked Data
dbSNP Id:
rs1471453969
gnomAD v2:
1-154544171-C-CTA
gnomAD v4:
1-154571695-C-CTA
MyVariant Identifiers:
chr1:g.154544171_154544172insTA (hg19)
chr1:g.154571695_154571696insTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571695_154571696insTA , CM000663.2:g.154571695_154571696insTA | GRCh38 |
| NC_000001.10:g.154544171_154544172insTA , CM000663.1:g.154544171_154544172insTA | GRCh37 |
| NC_000001.9:g.152810795_152810796insTA | NCBI36 |
| NG_008027.1:g.8915_8916insTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.872_873insTA MANE Select | ENSP00000357461.3:p.Leu292ThrfsTer? | |
| ENST00000636034.1:c.872_873insTA | ENSP00000489703.1:p.Leu292ThrfsTer? | |
| ENST00000637900.1:c.878_879insTA | ENSP00000490474.1:p.Leu294ThrfsTer? | |
| ENST00000368476.3:c.872_873insTA | ENSP00000357461.3:p.Leu292ThrfsTer? | |
| NM_000748.2:c.872_873insTA | NP_000739.1:p.Leu292ThrfsTer? | |
| XM_017000180.2:c.362_363insTA | XP_016855669.1:p.Leu122ThrfsTer? | |
| XR_001736952.2:n.1124_1125insTA | ||
| NM_000748.3:c.872_873insTA MANE Select | NP_000739.1:p.Leu292ThrfsTer? |