Linked Data
dbSNP Id:
rs1565477711
gnomAD v2:
12-13768385-TAAATGA-T
gnomAD v4:
12-13615451-TAAATGA-T
MyVariant Identifiers:
chr12:g.13768386_13768391del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13615457_13615462del , CM000674.2:g.13615457_13615462del | GRCh38 |
| NC_000012.11:g.13768391_13768396del , CM000674.1:g.13768391_13768396del | GRCh37 |
| NC_000012.10:g.13659658_13659663del | NCBI36 |
| NG_031854.1:g.369632_369637del | |
| NG_031854.2:g.371556_371561del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1500+36_1500+41del MANE Select | ENSP00000477455.1:n.1500+36_1500+41del | |
| ENST00000609686.3:c.1500+36_1500+41del | ENSP00000477455.1:n.1500+36_1500+41del | |
| NM_000834.3:c.1500+36_1500+41del | NP_000825.2:n.1500+36_1500+41del | |
| XM_011520628.1:c.1500+36_1500+41del | XP_011518930.1:n.1500+36_1500+41del | |
| XM_011520629.1:c.1500+36_1500+41del | XP_011518931.1:n.1500+36_1500+41del | |
| XM_011520630.1:c.1500+36_1500+41del | XP_011518932.1:n.1500+36_1500+41del | |
| XR_931372.1:n.307+231_307+236del | ||
| XR_931373.1:n.447+231_447+236del | ||
| XR_931374.1:n.246+231_246+236del | ||
| NM_000834.4:c.1500+36_1500+41del | NP_000825.2:n.1500+36_1500+41del | |
| XM_011520628.2:c.1500+36_1500+41del | XP_011518930.1:n.1500+36_1500+41del | |
| XM_011520629.2:c.1500+36_1500+41del | XP_011518931.1:n.1500+36_1500+41del | |
| XM_017019219.2:c.1500+36_1500+41del | XP_016874708.1:n.1500+36_1500+41del | |
| XR_001749013.1:n.728+231_728+236del | ||
| XR_931372.2:n.444+231_444+236del | ||
| XR_931373.2:n.586+231_586+236del | ||
| NM_000834.5:c.1500+36_1500+41del MANE Select | NP_000825.2:n.1500+36_1500+41del |