Linked Data
dbSNP Id:
rs1566792378
gnomAD v2:
13-101733845-A-AG
gnomAD v3:
13-101081494-A-AG
gnomAD v4:
13-101081494-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101081494_101081495insG , CM000675.2:g.101081494_101081495insG | GRCh38 |
| NC_000013.10:g.101733845_101733846insG , CM000675.1:g.101733845_101733846insG | GRCh37 |
| NC_000013.9:g.100531846_100531847insG | NCBI36 |
| NG_053176.1:g.340712_340713insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251127.11:c.3885+32_3885+33insC MANE Select | ENSP00000251127.6:n.3885+32_3885+33insC | |
| ENST00000648359.1:c.3885+32_3885+33insC | ENSP00000497465.1:n.3885+32_3885+33insC | |
| ENST00000675150.1:c.3606+32_3606+33insC | ENSP00000502680.1:n.3606+32_3606+33insC | |
| ENST00000675332.1:c.3972+32_3972+33insC | ENSP00000501955.1:n.3972+32_3972+33insC | |
| ENST00000676315.1:c.3798+32_3798+33insC | ENSP00000501603.1:n.3798+32_3798+33insC | |
| ENST00000251127.10:c.3885+32_3885+33insC | ENSP00000251127.6:n.3885+32_3885+33insC | |
| NM_052867.2:c.3885+32_3885+33insC | NP_443099.1:n.3885+32_3885+33insC | |
| XM_011521067.1:c.3942+32_3942+33insC | XP_011519369.1:n.3942+32_3942+33insC | |
| XM_011521068.1:c.3885+32_3885+33insC | XP_011519370.1:n.3885+32_3885+33insC | |
| XM_011521069.1:c.3855+32_3855+33insC | XP_011519371.1:n.3855+32_3855+33insC | |
| XM_011521070.1:c.3663+32_3663+33insC | XP_011519372.1:n.3663+32_3663+33insC | |
| NM_001350748.1:c.3972+32_3972+33insC | NP_001337677.1:n.3972+32_3972+33insC | |
| NM_001350749.1:c.3885+32_3885+33insC | NP_001337678.1:n.3885+32_3885+33insC | |
| NM_001350750.1:c.3798+32_3798+33insC | NP_001337679.1:n.3798+32_3798+33insC | |
| NM_001350751.1:c.3798+32_3798+33insC | NP_001337680.1:n.3798+32_3798+33insC | |
| NM_052867.3:c.3885+32_3885+33insC | NP_443099.1:n.3885+32_3885+33insC | |
| XM_011521067.2:c.3942+32_3942+33insC | XP_011519369.1:n.3942+32_3942+33insC | |
| XM_011521069.2:c.3855+32_3855+33insC | XP_011519371.1:n.3855+32_3855+33insC | |
| XM_017020536.2:c.3438+32_3438+33insC | XP_016876025.1:n.3438+32_3438+33insC | |
| XM_017020537.1:c.3120+32_3120+33insC | XP_016876026.1:n.3120+32_3120+33insC | |
| XM_024449336.1:c.4029+32_4029+33insC | XP_024305104.1:n.4029+32_4029+33insC | |
| NM_052867.4:c.3885+32_3885+33insC MANE Select | NP_443099.1:n.3885+32_3885+33insC | |
| NM_001350748.2:c.3972+32_3972+33insC | NP_001337677.1:n.3972+32_3972+33insC | |
| NM_001350749.2:c.3885+32_3885+33insC | NP_001337678.1:n.3885+32_3885+33insC | |
| NM_001350750.2:c.3798+32_3798+33insC | NP_001337679.1:n.3798+32_3798+33insC | |
| NM_001350751.2:c.3798+32_3798+33insC | NP_001337680.1:n.3798+32_3798+33insC |