Linked Data
ClinVar Variation Id:
296273
ClinVar RCV Id:
RCV000590803
RCV000800883
RCV000409050
RCV000411962
RCV000727676
RCV001272085
RCV002502176
dbSNP Id:
rs61752093
ExAC:
1:2338019 CAG / C
gnomAD v2:
1-2338019-CAG-C
gnomAD v3:
1-2406580-CAG-C
gnomAD v4:
1-2406580-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406581_2406582del , CM000663.2:g.2406581_2406582del | GRCh38 |
| NC_000001.10:g.2338020_2338021del , CM000663.1:g.2338020_2338021del | GRCh37 |
| NC_000001.9:g.2327880_2327881del | NCBI36 |
| NG_008342.1:g.10990_10991del | |
| NG_016128.1:g.19807_19808del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.874_875del | ENSP00000288774.3:p.Leu292ValfsTer? | |
| ENST00000447513.7:c.814_815del MANE Select | ENSP00000407922.2:p.Leu272ValfsTer? | |
| ENST00000650293.1:c.768_769del | ||
| ENST00000288774.7:c.874_875del | ENSP00000288774.3:p.Leu292ValfsTer? | |
| ENST00000447513.6:c.814_815del | ENSP00000407922.2:p.Leu272ValfsTer? | |
| ENST00000507596.5:c.814_815del | ENSP00000424291.1:p.Leu272ValfsTer? | |
| ENST00000510434.1:c.*180_*181del | ENSP00000423051.1:n.*180_*181del | |
| NM_002617.3:c.814_815del | NP_002608.1:p.Leu272ValfsTer? | |
| NM_153818.1:c.874_875del | NP_722540.1:p.Leu292ValfsTer? | |
| XM_011541573.1:c.871_872del | XP_011539875.1:p.Leu291ValfsTer? | |
| XM_011541574.1:c.439_440del | XP_011539876.1:p.Leu147ValfsTer? | |
| XM_011541575.1:c.439_440del | XP_011539877.1:p.Leu147ValfsTer? | |
| XR_946666.1:n.930_931del | ||
| XR_946666.2:n.879_880del | ||
| NM_001374425.1:c.871_872del | NP_001361354.1:p.Leu291ValfsTer? | |
| NM_001374426.1:c.439_440del | NP_001361355.1:p.Leu147ValfsTer? | |
| NM_001374427.1:c.382_383del | NP_001361356.1:p.Leu128ValfsTer? | |
| NM_002617.4:c.814_815del MANE Select | NP_002608.1:p.Leu272ValfsTer? | |
| NM_153818.2:c.874_875del | NP_722540.1:p.Leu292ValfsTer? | |
| NR_164636.1:n.929_930del |