Linked Data
dbSNP Id:
rs1186508426
gnomAD v2:
20-3650252-A-AG
gnomAD v3:
20-3669605-A-AG
gnomAD v4:
20-3669605-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3669610dup , CM000682.2:g.3669610dup | GRCh38 |
| NC_000020.10:g.3650257dup , CM000682.1:g.3650257dup | GRCh37 |
| NC_000020.9:g.3598257dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356518.7:c.2272dup MANE Select | ENSP00000348912.3:p.Leu758ProfsTer23 | |
| ENST00000350009.6:c.2194dup | ENSP00000322550.5:p.Leu732ProfsTer23 | |
| ENST00000356518.6:c.2272dup | ENSP00000348912.2:p.Leu758ProfsTer23 | |
| ENST00000379861.8:c.2272dup | ENSP00000369190.4:p.Leu758ProfsTer23 | |
| ENST00000466620.5:n.1833dup | ||
| ENST00000483362.1:n.1020dup | ||
| ENST00000617732.1:c.*959dup | ENSP00000483343.1:n.*959dup | |
| ENST00000619289.4:c.1912dup | ENSP00000484600.1:p.Leu638ProfsTer23 | |
| NM_001282447.1:c.2272dup | NP_001269376.1:p.Leu758ProfsTer23 | |
| NM_025220.3:c.2272dup | NP_079496.1:p.Leu758ProfsTer23 | |
| NM_153202.2:c.2194dup | NP_694882.1:p.Leu732ProfsTer23 | |
| XM_005260843.1:c.2311dup | XP_005260900.1:p.Leu771ProfsTer23 | |
| XM_006723639.1:c.2311dup | XP_006723702.1:p.Leu771ProfsTer23 | |
| XM_006723640.1:c.2302dup | XP_006723703.1:p.Leu768ProfsTer23 | |
| XM_011529366.1:c.2308dup | XP_011527668.1:p.Leu770ProfsTer23 | |
| XM_011529367.1:c.2269dup | XP_011527669.1:p.Leu757ProfsTer23 | |
| XM_011529368.1:c.2233dup | XP_011527670.1:p.Leu745ProfsTer23 | |
| XM_011529373.1:c.1309dup | XP_011527675.1:p.Leu437ProfsTer23 | |
| XR_937151.1:n.2384-236dup | ||
| XR_937152.1:n.2384-236dup | ||
| XR_937153.1:n.2296dup | ||
| XR_937154.1:n.2296dup | ||
| XR_937155.1:n.2217dup | ||
| XR_937157.1:n.2219dup | ||
| NM_001282447.2:c.2272dup | NP_001269376.1:p.Leu758ProfsTer23 | |
| NM_025220.4:c.2272dup | NP_079496.1:p.Leu758ProfsTer23 | |
| NM_153202.3:c.2194dup | NP_694882.1:p.Leu732ProfsTer23 | |
| XM_011529373.2:c.1309dup | XP_011527675.1:p.Leu437ProfsTer23 | |
| XR_001754405.1:n.2383dup | ||
| XR_002958534.1:n.2492dup | ||
| NM_001282447.3:c.2272dup | NP_001269376.1:p.Leu758ProfsTer23 | |
| NM_025220.5:c.2272dup MANE Select | NP_079496.1:p.Leu758ProfsTer23 | |
| NM_153202.4:c.2194dup | NP_694882.1:p.Leu732ProfsTer23 |