Linked Data
ClinVar Variation Id:
203800
ClinVar RCV Id:
RCV000185995
dbSNP Id:
rs772010858
gnomAD v2:
3-182733318-TC-T
gnomAD v4:
3-183015530-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183015531del , CM000665.2:g.183015531del | GRCh38 |
| NC_000003.11:g.182733319del , CM000665.1:g.182733319del | GRCh37 |
| NC_000003.10:g.184216013del | NCBI36 |
| NG_008100.1:g.89047del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.2085del MANE Select | ENSP00000265594.4:p.Val697CysfsTer15 | |
| ENST00000265594.8:c.2085del | ENSP00000265594.4:p.Val697CysfsTer15 | |
| ENST00000464601.5:n.517del | ||
| ENST00000492597.5:c.1758del | ENSP00000419898.1:p.Val588CysfsTer15 | |
| ENST00000497830.5:c.*1682del | ENSP00000420088.1:n.*1682del | |
| ENST00000497959.5:c.*546del | ENSP00000420648.1:n.*546del | |
| ENST00000539926.5:c.1635del | ENSP00000441253.2:p.Val547CysfsTer15 | |
| ENST00000610757.4:c.1635del | ENSP00000480435.1:p.Val547CysfsTer15 | |
| ENST00000629669.2:c.*449del | ENSP00000486824.1:n.*449del | |
| NM_001293273.1:c.1734del | NP_001280202.1:p.Val580CysfsTer15 | |
| NM_020166.4:c.2085del | NP_064551.3:p.Val697CysfsTer15 | |
| NR_120639.1:n.1949del | ||
| NR_120640.1:n.2632del | ||
| XM_006713702.1:c.1758del | XP_006713765.1:p.Val588CysfsTer15 | |
| XM_011512992.1:c.1971del | XP_011511294.1:p.Val659CysfsTer15 | |
| XR_241502.2:n.2015del | ||
| NM_001363880.1:c.1758del | NP_001350809.1:p.Val588CysfsTer15 | |
| XM_011512992.2:c.1971del | XP_011511294.1:p.Val659CysfsTer15 | |
| XR_001740207.2:n.2305del | ||
| XR_001740208.2:n.2158del | ||
| XR_001740209.2:n.1911del | ||
| XR_001740210.1:n.1988del | ||
| XR_241502.3:n.1961del | ||
| NM_020166.5:c.2085del MANE Select | NP_064551.3:p.Val697CysfsTer15 | |
| NM_001293273.2:c.1734del | NP_001280202.1:p.Val580CysfsTer15 | |
| NR_120639.2:n.1858del | ||
| NR_120640.2:n.2632del |