Canonical Allele Identifier: CA16617138
Gene: AHDC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421238
ClinVar RCV Id: RCV000482124
dbSNP Id: rs1064795000

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.27550962_27550963insTTGCGGCG , CM000663.2:g.27550962_27550963insTTGCGGCG GRCh38
NC_000001.10:g.27877473_27877474insTTGCGGCG , CM000663.1:g.27877473_27877474insTTGCGGCG GRCh37
NC_000001.9:g.27750060_27750061insTTGCGGCG NCBI36
NG_034158.1:g.57532_57533insCGCCGCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000247087.10:c.1153_1154insCGCCGCAA ENSP00000247087.4:p.Arg385ProfsTer?
ENST00000642245.1:c.1153_1154insCGCCGCAA ENSP00000495072.1:p.Arg385ProfsTer?
ENST00000642416.1:c.1153_1154insCGCCGCAA ENSP00000494394.1:p.Arg385ProfsTer?
ENST00000643308.1:n.1967_1968insCGCCGCAA
ENST00000644989.1:c.1153_1154insCGCCGCAA ENSP00000495665.1:p.Arg385ProfsTer?
ENST00000673934.1:c.1153_1154insCGCCGCAA MANE Select ENSP00000501218.1:p.Arg385ProfsTer?
ENST00000247087.9:c.1153_1154insCGCCGCAA ENSP00000247087.4:p.Arg385ProfsTer?
ENST00000374011.6:c.1153_1154insCGCCGCAA ENSP00000363123.2:p.Arg385ProfsTer?
NM_001029882.3:c.1153_1154insCGCCGCAA NP_001025053.1:p.Arg385ProfsTer?
XM_005245848.2:c.1153_1154insCGCCGCAA XP_005245905.1:p.Arg385ProfsTer?
XM_005245849.2:c.1153_1154insCGCCGCAA XP_005245906.1:p.Arg385ProfsTer?
XM_005245850.2:c.1153_1154insCGCCGCAA XP_005245907.1:p.Arg385ProfsTer?
XM_005245851.2:c.1153_1154insCGCCGCAA XP_005245908.1:p.Arg385ProfsTer?
XM_005245852.2:c.1153_1154insCGCCGCAA XP_005245909.1:p.Arg385ProfsTer?
XM_011541255.1:c.1153_1154insCGCCGCAA XP_011539557.1:p.Arg385ProfsTer?
XM_011541256.1:c.1153_1154insCGCCGCAA XP_011539558.1:p.Arg385ProfsTer?
XM_011541257.1:c.1153_1154insCGCCGCAA XP_011539559.1:p.Arg385ProfsTer?
XR_946609.1:n.2110_2111insCGCCGCAA
XM_005245848.3:c.1153_1154insCGCCGCAA XP_005245905.1:p.Arg385ProfsTer?
XM_005245849.3:c.1153_1154insCGCCGCAA XP_005245906.1:p.Arg385ProfsTer?
XM_005245850.3:c.1153_1154insCGCCGCAA XP_005245907.1:p.Arg385ProfsTer?
XM_005245851.3:c.1153_1154insCGCCGCAA XP_005245908.1:p.Arg385ProfsTer?
XM_005245852.3:c.1153_1154insCGCCGCAA XP_005245909.1:p.Arg385ProfsTer?
XM_011541256.2:c.1153_1154insCGCCGCAA XP_011539558.1:p.Arg385ProfsTer?
XM_011541257.2:c.1153_1154insCGCCGCAA XP_011539559.1:p.Arg385ProfsTer?
XM_024446461.1:c.1153_1154insCGCCGCAA XP_024302229.1:p.Arg385ProfsTer?
XR_946609.2:n.2220_2221insCGCCGCAA
NM_001371928.1:c.1153_1154insCGCCGCAA MANE Select NP_001358857.1:p.Arg385ProfsTer?