Linked Data
dbSNP Id:
rs1230509157
gnomAD v2:
12-116434595-ATT-A
gnomAD v3:
12-115996790-ATT-A
gnomAD v4:
12-115996790-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115996792_115996793del , CM000674.2:g.115996792_115996793del | GRCh38 |
| NC_000012.11:g.116434597_116434598del , CM000674.1:g.116434597_116434598del | GRCh37 |
| NC_000012.10:g.114918980_114918981del | NCBI36 |
| NG_023366.1:g.285395_285396del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2791-111_2791-110del MANE Select | ENSP00000281928.3:n.2791-111_2791-110del | |
| ENST00000548743.2:c.2761-111_2761-110del | ENSP00000448553.2:n.2761-111_2761-110del | |
| ENST00000549786.2:c.2219-111_2219-110del | ||
| ENST00000647927.1:n.3164-111_3164-110del | ||
| ENST00000648173.1:n.1586-111_1586-110del | ||
| ENST00000648379.1:n.1159-111_1159-110del | ||
| ENST00000648737.1:n.2555-111_2555-110del | ||
| ENST00000648916.1:n.802-111_802-110del | ||
| ENST00000649607.1:c.975-111_975-110del | ||
| ENST00000650226.1:c.2791-111_2791-110del | ENSP00000496981.1:n.2791-111_2791-110del | |
| ENST00000281928.7:c.2791-111_2791-110del | ENSP00000281928.3:n.2791-111_2791-110del | |
| NM_015335.4:c.2791-111_2791-110del | NP_056150.1:n.2791-111_2791-110del | |
| XM_011538080.1:c.2791-111_2791-110del | XP_011536382.1:n.2791-111_2791-110del | |
| XM_011538081.1:c.2788-111_2788-110del | XP_011536383.1:n.2788-111_2788-110del | |
| XM_011538082.1:c.2761-111_2761-110del | XP_011536384.1:n.2761-111_2761-110del | |
| XM_011538080.2:c.2791-111_2791-110del | XP_011536382.1:n.2791-111_2791-110del | |
| XM_011538081.2:c.2788-111_2788-110del | XP_011536383.1:n.2788-111_2788-110del | |
| XM_011538082.2:c.2761-111_2761-110del | XP_011536384.1:n.2761-111_2761-110del | |
| XM_017019090.1:c.2788-111_2788-110del | XP_016874579.1:n.2788-111_2788-110del | |
| NM_015335.5:c.2791-111_2791-110del MANE Select | NP_056150.1:n.2791-111_2791-110del |