Linked Data
dbSNP Id:
rs1372182829
gnomAD v2:
12-80849579-TAAG-T
gnomAD v3:
12-80460592-ATTC-A
gnomAD v4:
12-80460592-ATTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80460595_80460597del , CM000674.2:g.80460595_80460597del | GRCh38 |
| NC_000012.11:g.80849582_80849584del , CM000674.1:g.80849582_80849584del | GRCh37 |
| NC_000012.10:g.79373713_79373715del | NCBI36 |
| NG_034052.1:g.21250_21252del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.661-58_661-56del MANE Select | ENSP00000495607.1:n.661-58_661-56del | |
| ENST00000614701.4:c.661-58_661-56del | ENSP00000482885.1:n.661-58_661-56del | |
| ENST00000616559.4:c.787-58_787-56del | ENSP00000483259.1:n.787-58_787-56del | |
| NM_001145026.1:c.661-58_661-56del | NP_001138498.1:n.661-58_661-56del | |
| XM_011538290.1:c.661-58_661-56del | XP_011536592.1:n.661-58_661-56del | |
| XM_017019273.1:c.1327-58_1327-56del | XP_016874762.1:n.1327-58_1327-56del | |
| XM_017019274.1:c.1327-58_1327-56del | XP_016874763.1:n.1327-58_1327-56del | |
| XM_017019275.1:c.1327-58_1327-56del | XP_016874764.1:n.1327-58_1327-56del | |
| XR_001748688.1:n.1464-58_1464-56del | ||
| XR_001748689.1:n.1464-58_1464-56del | ||
| NM_001145026.2:c.661-58_661-56del MANE Select | NP_001138498.1:n.661-58_661-56del |