Linked Data
ClinVar Variation Id:
96688
dbSNP Id:
rs398124626
ExAC:
11:22271891 A / AT
gnomAD v2:
11-22271891-A-AT
gnomAD v3:
11-22250345-A-AT
gnomAD v4:
11-22250345-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22250347dup , CM000673.2:g.22250347dup | GRCh38 |
| NC_000011.9:g.22271893dup , CM000673.1:g.22271893dup | GRCh37 |
| NC_000011.8:g.22228469dup | NCBI36 |
| NG_015844.1:g.62172dup , LRG_868:g.62172dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682089.1:n.309dup | ||
| ENST00000682266.1:c.539dup | ENSP00000507766.1:p.Leu180PhefsTer6 | |
| ENST00000682341.1:c.947dup | ENSP00000508251.1:p.Leu316PhefsTer6 | |
| ENST00000682530.1:c.*921dup | ENSP00000506805.1:n.*921dup | |
| ENST00000683197.1:c.947dup | ENSP00000507641.1:p.Leu316PhefsTer6 | |
| ENST00000683411.1:c.539dup | ENSP00000508397.1:p.Leu180PhefsTer6 | |
| ENST00000683437.1:c.539dup | ENSP00000508408.1:p.Leu180PhefsTer6 | |
| ENST00000683613.1:n.1983dup | ||
| ENST00000683834.1:n.1189dup | ||
| ENST00000684663.1:c.944dup | ENSP00000508009.1:p.Leu315PhefsTer6 | |
| ENST00000324559.9:c.989dup MANE Select | ENSP00000315371.9:p.Leu330PhefsTer6 | |
| ENST00000648804.1:n.1324dup | ||
| ENST00000324559.8:c.989dup | ENSP00000315371.8:p.Leu330PhefsTer6 | |
| NM_001142649.1:c.986dup | NP_001136121.1:p.Leu329PhefsTer6 | |
| NM_213599.2:c.989dup , LRG_868t1:c.989dup | NP_998764.1:p.Leu330PhefsTer6 | |
| XM_005252820.2:c.947dup | XP_005252877.2:p.Leu316PhefsTer6 | |
| XM_005252821.2:c.944dup | XP_005252878.2:p.Leu315PhefsTer6 | |
| XM_005252822.3:c.911dup | XP_005252879.1:p.Leu304PhefsTer6 | |
| XM_005252823.3:c.908dup | XP_005252880.1:p.Leu303PhefsTer6 | |
| XM_011519949.1:c.896dup | XP_011518251.1:p.Leu299PhefsTer6 | |
| XM_005252820.3:c.947dup | XP_005252877.2:p.Leu316PhefsTer6 | |
| XM_005252821.3:c.944dup | XP_005252878.2:p.Leu315PhefsTer6 | |
| XM_005252822.4:c.911dup | XP_005252879.1:p.Leu304PhefsTer6 | |
| XM_011519949.2:c.896dup | XP_011518251.1:p.Leu299PhefsTer6 | |
| NM_001142649.2:c.986dup | NP_001136121.1:p.Leu329PhefsTer6 | |
| NM_213599.3:c.989dup MANE Select | NP_998764.1:p.Leu330PhefsTer6 |