Linked Data
ClinVar Variation Id:
1988387
ClinVar RCV Id:
RCV002781276
dbSNP Id:
rs1485092231
gnomAD v2:
17-7127631-TC-T
gnomAD v4:
17-7224312-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224314del , CM000679.2:g.7224314del | GRCh38 |
| NC_000017.10:g.7127633del , CM000679.1:g.7127633del | GRCh37 |
| NC_000017.9:g.7068357del | NCBI36 |
| NG_007975.1:g.9481del | |
| NG_008391.2:g.738del | |
| NG_033038.1:g.15232del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1533-7del MANE Select | ENSP00000349297.5:n.1533-7del | |
| ENST00000322910.9:c.*1488-7del | ENSP00000325395.5:n.*1488-7del | |
| ENST00000350303.9:c.1467-7del | ENSP00000344152.5:n.1467-7del | |
| ENST00000356839.9:c.1533-7del | ENSP00000349297.5:n.1533-7del | |
| ENST00000542255.6:c.391-7del | ||
| ENST00000543245.6:c.1602-7del | ENSP00000438689.2:n.1602-7del | |
| ENST00000578319.5:n.28-7del | ||
| ENST00000578711.1:n.810del | ||
| ENST00000578809.5:n.98del | ||
| ENST00000579391.1:n.141-7del | ||
| ENST00000579425.5:n.649-7del | ||
| ENST00000579546.1:c.272-7del | ||
| ENST00000579894.5:n.320-7del | ||
| ENST00000582450.1:n.34del | ||
| ENST00000583074.5:n.154-7del | ||
| ENST00000583850.5:n.308-7del | ||
| ENST00000583858.5:c.464-7del | ||
| ENST00000585203.6:n.724-7del | ||
| NM_000018.3:c.1533-7del | NP_000009.1:n.1533-7del | |
| NM_001033859.2:c.1467-7del | NP_001029031.1:n.1467-7del | |
| NM_001270447.1:c.1602-7del | NP_001257376.1:n.1602-7del | |
| NM_001270448.1:c.1305-7del | NP_001257377.1:n.1305-7del | |
| XM_006721516.2:c.1533-7del | XP_006721579.2:n.1533-7del | |
| XM_011523829.1:c.1435-7del | XP_011522131.1:n.1435-7del | |
| XM_011523830.1:c.1435-7del | XP_011522132.1:n.1435-7del | |
| XR_934021.1:n.1640-7del | ||
| XR_934022.1:n.1542-7del | ||
| XR_934023.1:n.1542-7del | ||
| XM_006721516.3:c.1533-7del | XP_006721579.2:n.1533-7del | |
| XM_011523829.2:c.1435-7del | XP_011522131.1:n.1435-7del | |
| XM_011523830.2:c.1435-7del | XP_011522132.1:n.1435-7del | |
| XM_024450741.1:c.1435-7del | XP_024306509.1:n.1435-7del | |
| XR_934021.2:n.1592-7del | ||
| XR_934022.2:n.1494-7del | ||
| XR_934023.2:n.1494-7del | ||
| NM_000018.4:c.1533-7del MANE Select | NP_000009.1:n.1533-7del | |
| NM_001033859.3:c.1467-7del | NP_001029031.1:n.1467-7del | |
| NM_001270447.2:c.1602-7del | NP_001257376.1:n.1602-7del | |
| NM_001270448.2:c.1305-7del | NP_001257377.1:n.1305-7del |