Linked Data
dbSNP Id:
rs1165452651
gnomAD v2:
17-45363761-T-TGTA
gnomAD v4:
17-47286395-T-TGTA
MyVariant Identifiers:
chr17:g.45363761_45363762insGTA (hg19)
chr17:g.47286395_47286396insGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286396_47286397insTAG , CM000679.2:g.47286396_47286397insTAG | GRCh38 |
| NC_000017.10:g.45363762_45363763insTAG , CM000679.1:g.45363762_45363763insTAG | GRCh37 |
| NC_000017.9:g.42718761_42718762insTAG | NCBI36 |
| NG_008332.2:g.37555_37556insTAG , LRG_481:g.37555_37556insTAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.751_752insTAG | ENSP00000513002.1:p.Asp250_Ala251insVal | |
| ENST00000559488.7:c.751_752insTAG MANE Select | ENSP00000452786.2:p.Asp250_Ala251insVal | |
| ENST00000559488.5:c.751_752insTAG | ENSP00000452786.1:p.Asp250_Ala251insVal | |
| ENST00000560629.1:c.716_717insTAG | ||
| ENST00000571680.1:c.751_752insTAG | ENSP00000461626.1:p.Asp250_Ala251insVal | |
| NM_000212.2:c.751_752insTAG , LRG_481t1:c.751_752insTAG | NP_000203.2:p.Asp250_Ala251insVal | |
| NM_000212.3:c.751_752insTAG MANE Select | NP_000203.2:p.Asp250_Ala251insVal |