Linked Data
dbSNP Id:
rs1361894975
gnomAD v2:
17-7125940-CA-C
gnomAD v3:
17-7222621-CA-C
gnomAD v4:
17-7222621-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222623del , CM000679.2:g.7222623del | GRCh38 |
| NC_000017.10:g.7125942del , CM000679.1:g.7125942del | GRCh37 |
| NC_000017.9:g.7066666del | NCBI36 |
| NG_007975.1:g.7790del | |
| NG_008391.2:g.2429del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.879-44del MANE Select | ENSP00000349297.5:n.879-44del | |
| ENST00000322910.9:c.*834-44del | ENSP00000325395.5:n.*834-44del | |
| ENST00000350303.9:c.813-44del | ENSP00000344152.5:n.813-44del | |
| ENST00000356839.9:c.879-44del | ENSP00000349297.5:n.879-44del | |
| ENST00000543245.6:c.948-44del | ENSP00000438689.2:n.948-44del | |
| ENST00000581378.5:c.597-44del | ||
| ENST00000582379.1:n.263-44del | ||
| NM_000018.3:c.879-44del | NP_000009.1:n.879-44del | |
| NM_001033859.2:c.813-44del | NP_001029031.1:n.813-44del | |
| NM_001270447.1:c.948-44del | NP_001257376.1:n.948-44del | |
| NM_001270448.1:c.651-44del | NP_001257377.1:n.651-44del | |
| XM_006721516.2:c.879-44del | XP_006721579.2:n.879-44del | |
| XM_011523829.1:c.879-44del | XP_011522131.1:n.879-44del | |
| XM_011523830.1:c.879-44del | XP_011522132.1:n.879-44del | |
| XR_934021.1:n.986-44del | ||
| XR_934022.1:n.986-44del | ||
| XR_934023.1:n.986-44del | ||
| XM_006721516.3:c.879-44del | XP_006721579.2:n.879-44del | |
| XM_011523829.2:c.879-44del | XP_011522131.1:n.879-44del | |
| XM_011523830.2:c.879-44del | XP_011522132.1:n.879-44del | |
| XM_024450741.1:c.879-44del | XP_024306509.1:n.879-44del | |
| XR_934021.2:n.938-44del | ||
| XR_934022.2:n.938-44del | ||
| XR_934023.2:n.938-44del | ||
| NM_000018.4:c.879-44del MANE Select | NP_000009.1:n.879-44del | |
| NM_001033859.3:c.813-44del | NP_001029031.1:n.813-44del | |
| NM_001270447.2:c.948-44del | NP_001257376.1:n.948-44del | |
| NM_001270448.2:c.651-44del | NP_001257377.1:n.651-44del |