Linked Data
dbSNP Id:
rs1568988373
gnomAD v2:
21-45753177-CG-C
gnomAD v3:
21-44333294-CG-C
gnomAD v4:
21-44333294-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333295del , CM000683.2:g.44333295del | GRCh38 |
| NC_000021.8:g.45753178del , CM000683.1:g.45753178del | GRCh37 |
| NC_000021.7:g.44577606del | NCBI36 |
| NG_032952.1:g.11108del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.144-33del MANE Select | ENSP00000344566.4:n.144-33del | |
| ENST00000325223.7:c.144-33del | ENSP00000317302.7:n.144-33del | |
| ENST00000339818.8:c.144-33del | ENSP00000344566.4:n.144-33del | |
| ENST00000397956.7:c.144-33del | ENSP00000381047.3:n.144-33del | |
| ENST00000462742.1:n.2315-33del | ||
| ENST00000478674.1:n.170del | ||
| ENST00000496321.5:n.269-42del | ||
| NM_001271440.1:c.144-33del | NP_001258369.1:n.144-33del | |
| NM_001271441.1:c.144-33del | NP_001258370.1:n.144-33del | |
| NM_001271442.1:c.30-42del | NP_001258371.1:n.30-42del | |
| NM_004928.2:c.144-33del | NP_004919.1:n.144-33del | |
| XM_006724051.2:c.219-33del | XP_006724114.1:n.219-33del | |
| XM_006724052.2:c.219-33del | XP_006724115.1:n.219-33del | |
| XM_006724053.2:c.-181-33del | XP_006724116.1:n.-181-33del | |
| XR_937571.1:n.347-33del | ||
| XM_006724051.3:c.219-33del | XP_006724114.1:n.219-33del | |
| XM_006724053.3:c.-181-33del | XP_006724116.1:n.-181-33del | |
| XM_017028470.1:c.348-33del | XP_016883959.1:n.348-33del | |
| XM_017028471.1:c.93-33del | XP_016883960.1:n.93-33del | |
| XM_017028472.1:c.-181-33del | XP_016883961.1:n.-181-33del | |
| XR_937571.2:n.354-33del | ||
| NM_004928.3:c.144-33del MANE Select | NP_004919.1:n.144-33del | |
| NM_001271440.2:c.144-33del | NP_001258369.1:n.144-33del | |
| NM_001271441.2:c.144-33del | NP_001258370.1:n.144-33del |