Linked Data
dbSNP Id:
rs1938762022
gnomAD v3:
12-47977210-CTCTGCA-C
gnomAD v4:
12-47977210-CTCTGCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47977215_47977220del , CM000674.2:g.47977215_47977220del | GRCh38 |
| NC_000012.11:g.48370998_48371003del , CM000674.1:g.48370998_48371003del | GRCh37 |
| NC_000012.10:g.46657265_46657270del | NCBI36 |
| NG_008072.1:g.32287_32292del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.3067-61_3067-56del | ENSP00000338213.6:n.3067-61_3067-56del | |
| ENST00000380518.8:c.3274-61_3274-56del MANE Select | ENSP00000369889.3:n.3274-61_3274-56del | |
| ENST00000337299.6:c.3067-61_3067-56del | ENSP00000338213.6:n.3067-61_3067-56del | |
| ENST00000380518.7:c.3274-61_3274-56del | ENSP00000369889.3:n.3274-61_3274-56del | |
| ENST00000493991.5:n.2360-61_2360-56del | ||
| ENST00000546974.1:n.127-61_127-56del | ||
| NM_001844.4:c.3274-61_3274-56del | NP_001835.3:n.3274-61_3274-56del | |
| NM_033150.2:c.3067-61_3067-56del | NP_149162.2:n.3067-61_3067-56del | |
| XM_006719242.2:c.3418-61_3418-56del | XP_006719305.2:n.3418-61_3418-56del | |
| XM_011537928.1:c.3418-61_3418-56del | XP_011536230.1:n.3418-61_3418-56del | |
| XM_011537929.1:c.3418-61_3418-56del | XP_011536231.1:n.3418-61_3418-56del | |
| XM_011537930.1:c.3418-61_3418-56del | XP_011536232.1:n.3418-61_3418-56del | |
| XM_011537931.1:c.3418-61_3418-56del | XP_011536233.1:n.3418-61_3418-56del | |
| XM_011537932.1:c.3418-61_3418-56del | XP_011536234.1:n.3418-61_3418-56del | |
| XM_011537933.1:c.3418-61_3418-56del | XP_011536235.1:n.3418-61_3418-56del | |
| XM_011537934.1:c.3415-61_3415-56del | XP_011536236.1:n.3415-61_3415-56del | |
| XM_011537935.1:c.2362-61_2362-56del | XP_011536237.1:n.2362-61_2362-56del | |
| XM_017018828.1:c.3418-61_3418-56del | XP_016874317.1:n.3418-61_3418-56del | |
| XM_017018829.1:c.3415-61_3415-56del | XP_016874318.1:n.3415-61_3415-56del | |
| XM_017018830.1:c.3208-61_3208-56del | XP_016874319.1:n.3208-61_3208-56del | |
| XM_017018831.2:c.2728-61_2728-56del | XP_016874320.1:n.2728-61_2728-56del | |
| NM_001844.5:c.3274-61_3274-56del MANE Select | NP_001835.3:n.3274-61_3274-56del | |
| NM_033150.3:c.3067-61_3067-56del | NP_149162.2:n.3067-61_3067-56del |