Linked Data
ClinVar Variation Id:
4406
dbSNP Id:
rs386134181
gnomAD v2:
2-202611418-CAG-C
gnomAD v3:
2-201746695-CAG-C
gnomAD v4:
2-201746695-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201746696_201746697del , CM000664.2:g.201746696_201746697del | GRCh38 |
| NC_000002.11:g.202611419_202611420del , CM000664.1:g.202611419_202611420del | GRCh37 |
| NC_000002.10:g.202319664_202319665del | NCBI36 |
| NG_008775.1:g.39476_39477del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264276.11:c.1867_1868del MANE Select | ENSP00000264276.6:p.Leu623ValfsTer24 | |
| ENST00000482789.6:n.2209_2210del | ||
| ENST00000482891.6:n.2209_2210del | ||
| ENST00000679416.1:n.2209_2210del | ||
| ENST00000679435.1:c.1867_1868del | ENSP00000505218.1:p.Leu623ValfsTer24 | |
| ENST00000679516.1:c.1867_1868del | ENSP00000505187.1:p.Leu623ValfsTer24 | |
| ENST00000679549.1:n.1096_1097del | ||
| ENST00000679550.1:c.1867_1868del | ENSP00000506193.1:p.Leu623ValfsTer24 | |
| ENST00000679618.1:c.1867_1868del | ENSP00000506274.1:p.Leu623ValfsTer24 | |
| ENST00000679630.1:n.2209_2210del | ||
| ENST00000679686.1:n.1981_1982del | ||
| ENST00000679701.1:n.2209_2210del | ||
| ENST00000679916.1:c.1867_1868del | ENSP00000506172.1:p.Leu623ValfsTer24 | |
| ENST00000679939.1:c.1867_1868del | ENSP00000505704.1:p.Leu623ValfsTer24 | |
| ENST00000679949.1:c.1819_1820del | ENSP00000505232.1:p.Leu607ValfsTer24 | |
| ENST00000680000.1:c.1867_1868del | ENSP00000506173.1:p.Leu623ValfsTer24 | |
| ENST00000680135.1:c.1867_1868del | ENSP00000506211.1:p.Leu623ValfsTer27 | |
| ENST00000680149.1:c.1867_1868del | ENSP00000506497.1:p.Leu623ValfsTer24 | |
| ENST00000680163.1:c.1867_1868del | ENSP00000505092.1:p.Leu623ValfsTer24 | |
| ENST00000680174.1:n.2209_2210del | ||
| ENST00000680236.1:c.1867_1868del | ENSP00000506212.1:p.Leu623ValfsTer24 | |
| ENST00000680287.1:c.1867_1868del | ENSP00000506547.1:p.Leu623ValfsTer24 | |
| ENST00000680497.1:c.1969_1970del | ENSP00000505954.1:p.Leu657ValfsTer24 | |
| ENST00000680508.1:c.1867_1868del | ENSP00000505749.1:p.Leu623ValfsTer24 | |
| ENST00000680569.1:c.1867_1868del | ENSP00000505522.1:p.Leu623ValfsTer24 | |
| ENST00000680630.1:n.2209_2210del | ||
| ENST00000680644.1:c.*378_*379del | ENSP00000505738.1:n.*378_*379del | |
| ENST00000680726.1:c.1867_1868del | ENSP00000505505.1:p.Leu623ValfsTer24 | |
| ENST00000680737.1:n.2209_2210del | ||
| ENST00000680759.1:c.1867_1868del | ENSP00000505848.1:p.Leu623ValfsTer24 | |
| ENST00000680814.1:c.1867_1868del | ENSP00000505710.1:p.Leu623ValfsTer24 | |
| ENST00000680828.1:c.1867_1868del | ENSP00000505249.1:p.Leu623ValfsTer24 | |
| ENST00000680861.1:c.1867_1868del | ENSP00000505043.1:p.Leu623ValfsTer24 | |
| ENST00000680927.1:c.1867_1868del | ENSP00000505473.1:p.Leu623ValfsTer24 | |
| ENST00000680939.1:n.2209_2210del | ||
| ENST00000681152.1:c.1867_1868del | ENSP00000505388.1:p.Leu623ValfsTer24 | |
| ENST00000681250.1:c.1471+10705_1471+10706del | ENSP00000505684.1:n.1471+10705_1471+10706... | |
| ENST00000681256.1:c.1867_1868del | ENSP00000505446.1:p.Leu623ValfsTer24 | |
| ENST00000681279.1:n.2209_2210del | ||
| ENST00000681303.1:c.1867_1868del | ENSP00000505576.1:p.Leu623ValfsTer24 | |
| ENST00000681307.1:n.2209_2210del | ||
| ENST00000681461.1:n.2209_2210del | ||
| ENST00000681619.1:c.1867_1868del | ENSP00000505071.1:p.Leu623ValfsTer24 | |
| ENST00000681716.1:c.1867_1868del | ENSP00000505078.1:p.Leu623ValfsTer24 | |
| ENST00000681758.1:n.2209_2210del | ||
| ENST00000681768.1:c.1867_1868del | ENSP00000506311.1:p.Leu623ValfsTer24 | |
| ENST00000681808.1:c.1867_1868del | ENSP00000505219.1:p.Leu623ValfsTer24 | |
| ENST00000264276.10:c.1867_1868del | ENSP00000264276.6:p.Leu623ValfsTer24 | |
| ENST00000482789.5:n.2007_2008del | ||
| ENST00000482891.5:n.2007_2008del | ||
| NM_020919.3:c.1867_1868del | NP_065970.2:p.Leu623ValfsTer24 | |
| XM_005246709.2:c.1867_1868del | XP_005246766.1:p.Leu623ValfsTer24 | |
| XM_006712654.1:c.1867_1868del | XP_006712717.1:p.Leu623ValfsTer24 | |
| XM_006712655.2:c.-136_-135del | XP_006712718.1:n.-136_-135del | |
| XM_011511530.1:c.1528_1529del | XP_011509832.1:p.Leu510ValfsTer24 | |
| XM_011511531.1:c.1867_1868del | XP_011509833.1:p.Leu623ValfsTer24 | |
| XR_922974.1:n.2002_2003del | ||
| XM_006712654.3:c.1867_1868del | XP_006712717.1:p.Leu623ValfsTer24 | |
| XM_006712655.3:c.-136_-135del | XP_006712718.1:n.-136_-135del | |
| XM_017004569.2:c.1867_1868del | XP_016860058.1:p.Leu623ValfsTer24 | |
| XM_017004570.2:c.1867_1868del | XP_016860059.1:p.Leu623ValfsTer24 | |
| XM_017004572.2:c.-619_-618del | XP_016860061.1:n.-619_-618del | |
| XM_024453024.1:c.1528_1529del | XP_024308792.1:p.Leu510ValfsTer24 | |
| XM_024453025.1:c.-136_-135del | XP_024308793.1:n.-136_-135del | |
| XR_001738864.2:n.2002_2003del | ||
| XR_001738865.2:n.2002_2003del | ||
| XR_001738866.2:n.2002_2003del | ||
| XR_001738867.2:n.2002_2003del | ||
| XR_002959320.1:n.1120_1121del | ||
| NM_020919.4:c.1867_1868del MANE Select | NP_065970.2:p.Leu623ValfsTer24 |