Linked Data
ClinVar Variation Id:
285942
dbSNP Id:
rs281865480
ExAC:
11:22281279 C / CA
gnomAD v2:
11-22281279-C-CA
gnomAD v3:
11-22259733-C-CA
gnomAD v4:
11-22259733-C-CA
MyVariant Identifiers:
chr11:g.22281279_22281280insA (hg19)
chr11:g.22259738dupA (hg38)
chr11:g.22259733_22259734insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22259738dup , CM000673.2:g.22259738dup | GRCh38 |
| NC_000011.9:g.22281284dup , CM000673.1:g.22281284dup | GRCh37 |
| NC_000011.8:g.22237860dup | NCBI36 |
| NG_015844.1:g.71563dup , LRG_868:g.71563dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682266.1:c.1177dup | ENSP00000507766.1:p.Met393AsnfsTer11 | |
| ENST00000682341.1:c.1585dup | ENSP00000508251.1:p.Met529AsnfsTer11 | |
| ENST00000683197.1:c.1585dup | ENSP00000507641.1:p.Met529AsnfsTer11 | |
| ENST00000683411.1:c.1177dup | ENSP00000508397.1:p.Met393AsnfsTer11 | |
| ENST00000683437.1:c.1177dup | ENSP00000508408.1:p.Met393AsnfsTer11 | |
| ENST00000683613.1:n.2621dup | ||
| ENST00000684663.1:c.1582dup | ENSP00000508009.1:p.Met528AsnfsTer11 | |
| ENST00000324559.9:c.1627dup MANE Select | ENSP00000315371.9:p.Met543AsnfsTer11 | |
| ENST00000648804.1:n.1962dup | ||
| ENST00000324559.8:c.1627dup | ENSP00000315371.8:p.Met543AsnfsTer11 | |
| NM_001142649.1:c.1624dup | NP_001136121.1:p.Met542AsnfsTer11 | |
| NM_213599.2:c.1627dup , LRG_868t1:c.1627dup | NP_998764.1:p.Met543AsnfsTer11 | |
| XM_005252820.2:c.1585dup | XP_005252877.2:p.Met529AsnfsTer11 | |
| XM_005252821.2:c.1582dup | XP_005252878.2:p.Met528AsnfsTer11 | |
| XM_005252822.3:c.1549dup | XP_005252879.1:p.Met517AsnfsTer11 | |
| XM_005252823.3:c.1546dup | XP_005252880.1:p.Met516AsnfsTer11 | |
| XM_011519949.1:c.1534dup | XP_011518251.1:p.Met512AsnfsTer11 | |
| XM_005252820.3:c.1585dup | XP_005252877.2:p.Met529AsnfsTer11 | |
| XM_005252821.3:c.1582dup | XP_005252878.2:p.Met528AsnfsTer11 | |
| XM_005252822.4:c.1549dup | XP_005252879.1:p.Met517AsnfsTer11 | |
| XM_011519949.2:c.1534dup | XP_011518251.1:p.Met512AsnfsTer11 | |
| NM_001142649.2:c.1624dup | NP_001136121.1:p.Met542AsnfsTer11 | |
| NM_213599.3:c.1627dup MANE Select | NP_998764.1:p.Met543AsnfsTer11 |