Linked Data
dbSNP Id:
rs575657654
gnomAD v2:
12-1889920-T-TA
gnomAD v3:
12-1780754-T-TA
gnomAD v4:
12-1780754-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1780754_1780755insA , CM000674.2:g.1780754_1780755insA | GRCh38 |
| NC_000012.11:g.1889920_1889921insA , CM000674.1:g.1889920_1889921insA | GRCh37 |
| NC_000012.10:g.1760181_1760182insA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357103.5:c.650+117_650+118insA MANE Select | ENSP00000349616.4:n.650+117_650+118insA | |
| ENST00000357103.4:c.650+117_650+118insA | ENSP00000349616.4:n.650+117_650+118insA | |
| ENST00000537190.1:n.490+117_490+118insA | ||
| NM_024551.2:c.650+117_650+118insA | NP_078827.2:n.650+117_650+118insA | |
| XM_005253789.1:c.650+117_650+118insA | XP_005253846.1:n.650+117_650+118insA | |
| XM_006719018.1:c.650+117_650+118insA | XP_006719081.1:n.650+117_650+118insA | |
| XM_011521024.1:c.650+117_650+118insA | XP_011519326.1:n.650+117_650+118insA | |
| XM_011521025.1:c.463+2729_463+2730insA | XP_011519327.1:n.463+2729_463+2730insA | |
| XM_005253789.2:c.650+117_650+118insA | XP_005253846.1:n.650+117_650+118insA | |
| XM_006719018.2:c.650+117_650+118insA | XP_006719081.1:n.650+117_650+118insA | |
| XM_011521024.2:c.650+117_650+118insA | XP_011519326.1:n.650+117_650+118insA | |
| NM_024551.3:c.650+117_650+118insA MANE Select | NP_078827.2:n.650+117_650+118insA | |
| NM_001375363.1:c.650+117_650+118insA | NP_001362292.1:n.650+117_650+118insA | |
| NM_001375364.1:c.650+117_650+118insA | NP_001362293.1:n.650+117_650+118insA | |
| NM_001375365.1:c.650+117_650+118insA | NP_001362294.1:n.650+117_650+118insA |