Linked Data
dbSNP Id:
rs1172968255
gnomAD v2:
17-7124831-AC-A
gnomAD v3:
17-7221512-AC-A
gnomAD v4:
17-7221512-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221516del , CM000679.2:g.7221516del | GRCh38 |
| NC_000017.10:g.7124835del , CM000679.1:g.7124835del | GRCh37 |
| NC_000017.9:g.7065559del | NCBI36 |
| NG_007975.1:g.6683del | |
| NG_008391.2:g.3538del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.478-22del MANE Select | ENSP00000349297.5:n.478-22del | |
| ENST00000322910.9:c.*433-22del | ENSP00000325395.5:n.*433-22del | |
| ENST00000350303.9:c.412-22del | ENSP00000344152.5:n.412-22del | |
| ENST00000356839.9:c.478-22del | ENSP00000349297.5:n.478-22del | |
| ENST00000543245.6:c.547-22del | ENSP00000438689.2:n.547-22del | |
| ENST00000577191.5:n.555-22del | ||
| ENST00000577433.5:n.686-22del | ||
| ENST00000577857.5:n.294-22del | ||
| ENST00000579286.5:n.659-22del | ||
| ENST00000579886.2:c.316-22del | ENSP00000463246.1:n.316-22del | |
| ENST00000580365.1:n.209-22del | ||
| ENST00000581378.5:c.177-3del | ||
| ENST00000581562.5:n.525-436del | ||
| ENST00000582166.1:n.459-22del | ||
| ENST00000583312.5:c.478-22del | ENSP00000467920.1:n.478-22del | |
| ENST00000583760.1:n.238del | ||
| NM_000018.3:c.478-22del | NP_000009.1:n.478-22del | |
| NM_001033859.2:c.412-22del | NP_001029031.1:n.412-22del | |
| NM_001270447.1:c.547-22del | NP_001257376.1:n.547-22del | |
| NM_001270448.1:c.250-22del | NP_001257377.1:n.250-22del | |
| XM_006721516.2:c.478-22del | XP_006721579.2:n.478-22del | |
| XM_011523829.1:c.478-22del | XP_011522131.1:n.478-22del | |
| XM_011523830.1:c.478-22del | XP_011522132.1:n.478-22del | |
| XR_934021.1:n.585-22del | ||
| XR_934022.1:n.585-22del | ||
| XR_934023.1:n.585-22del | ||
| XM_006721516.3:c.478-22del | XP_006721579.2:n.478-22del | |
| XM_011523829.2:c.478-22del | XP_011522131.1:n.478-22del | |
| XM_011523830.2:c.478-22del | XP_011522132.1:n.478-22del | |
| XM_024450741.1:c.478-22del | XP_024306509.1:n.478-22del | |
| XR_934021.2:n.537-22del | ||
| XR_934022.2:n.537-22del | ||
| XR_934023.2:n.537-22del | ||
| NM_000018.4:c.478-22del MANE Select | NP_000009.1:n.478-22del | |
| NM_001033859.3:c.412-22del | NP_001029031.1:n.412-22del | |
| NM_001270447.2:c.547-22del | NP_001257376.1:n.547-22del | |
| NM_001270448.2:c.250-22del | NP_001257377.1:n.250-22del |