Linked Data
dbSNP Id:
rs1292985182
gnomAD v2:
12-116440680-TCA-T
gnomAD v3:
12-116002875-TCA-T
gnomAD v4:
12-116002875-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116002878_116002879del , CM000674.2:g.116002878_116002879del | GRCh38 |
| NC_000012.11:g.116440683_116440684del , CM000674.1:g.116440683_116440684del | GRCh37 |
| NC_000012.10:g.114925066_114925067del | NCBI36 |
| NG_023366.1:g.279310_279311del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2569+126_2569+127del MANE Select | ENSP00000281928.3:n.2569+126_2569+127del | |
| ENST00000548743.2:c.2539+126_2539+127del | ENSP00000448553.2:n.2539+126_2539+127del | |
| ENST00000549786.2:c.1997+126_1997+127del | ||
| ENST00000648173.1:n.1364+126_1364+127del | ||
| ENST00000648379.1:n.937+126_937+127del | ||
| ENST00000648737.1:n.2333+126_2333+127del | ||
| ENST00000648916.1:n.580+126_580+127del | ||
| ENST00000649607.1:c.756+126_756+127del | ||
| ENST00000650226.1:c.2569+126_2569+127del | ENSP00000496981.1:n.2569+126_2569+127del | |
| ENST00000281928.7:c.2569+126_2569+127del | ENSP00000281928.3:n.2569+126_2569+127del | |
| NM_015335.4:c.2569+126_2569+127del | NP_056150.1:n.2569+126_2569+127del | |
| XM_011538080.1:c.2569+126_2569+127del | XP_011536382.1:n.2569+126_2569+127del | |
| XM_011538081.1:c.2569+126_2569+127del | XP_011536383.1:n.2569+126_2569+127del | |
| XM_011538082.1:c.2539+126_2539+127del | XP_011536384.1:n.2539+126_2539+127del | |
| XM_011538080.2:c.2569+126_2569+127del | XP_011536382.1:n.2569+126_2569+127del | |
| XM_011538081.2:c.2569+126_2569+127del | XP_011536383.1:n.2569+126_2569+127del | |
| XM_011538082.2:c.2539+126_2539+127del | XP_011536384.1:n.2539+126_2539+127del | |
| XM_017019090.1:c.2569+126_2569+127del | XP_016874579.1:n.2569+126_2569+127del | |
| NM_015335.5:c.2569+126_2569+127del MANE Select | NP_056150.1:n.2569+126_2569+127del |