Canonical Allele Identifier: CA1139656040

Gene: AHDC1

Linked Data

• ClinVar Variation Id: 986265
• ClinVar RCV Id: RCV001267580
• dbSNP Id: rs2019482037

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27550567del , CM000663.2:g.27550567del	GRCh38
NC_000001.10:g.27877078del , CM000663.1:g.27877078del	GRCh37
NC_000001.9:g.27749665del	NCBI36
NG_034158.1:g.57930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247087.10:c.1551del	ENSP00000247087.4:p.Thr518ProfsTer4
ENST00000642245.1:c.1551del	ENSP00000495072.1:p.Thr518ProfsTer4
ENST00000642416.1:c.1551del	ENSP00000494394.1:p.Thr518ProfsTer4
ENST00000644989.1:c.1551del	ENSP00000495665.1:p.Thr518ProfsTer4
ENST00000673934.1:c.1551del MANE Select	ENSP00000501218.1:p.Thr518ProfsTer4
ENST00000247087.9:c.1551del	ENSP00000247087.4:p.Thr518ProfsTer4
ENST00000374011.6:c.1551del	ENSP00000363123.2:p.Thr518ProfsTer4
NM_001029882.3:c.1551del	NP_001025053.1:p.Thr518ProfsTer4
XM_005245848.2:c.1551del	XP_005245905.1:p.Thr518ProfsTer4
XM_005245849.2:c.1551del	XP_005245906.1:p.Thr518ProfsTer4
XM_005245850.2:c.1551del	XP_005245907.1:p.Thr518ProfsTer4
XM_005245851.2:c.1551del	XP_005245908.1:p.Thr518ProfsTer4
XM_005245852.2:c.1551del	XP_005245909.1:p.Thr518ProfsTer4
XM_011541255.1:c.1551del	XP_011539557.1:p.Thr518ProfsTer4
XM_011541256.1:c.1551del	XP_011539558.1:p.Thr518ProfsTer4
XM_011541257.1:c.1551del	XP_011539559.1:p.Thr518ProfsTer4
XR_946609.1:n.2508del
XM_005245848.3:c.1551del	XP_005245905.1:p.Thr518ProfsTer4
XM_005245849.3:c.1551del	XP_005245906.1:p.Thr518ProfsTer4
XM_005245850.3:c.1551del	XP_005245907.1:p.Thr518ProfsTer4
XM_005245851.3:c.1551del	XP_005245908.1:p.Thr518ProfsTer4
XM_005245852.3:c.1551del	XP_005245909.1:p.Thr518ProfsTer4
XM_011541256.2:c.1551del	XP_011539558.1:p.Thr518ProfsTer4
XM_011541257.2:c.1551del	XP_011539559.1:p.Thr518ProfsTer4
XM_024446461.1:c.1551del	XP_024302229.1:p.Thr518ProfsTer4
XR_946609.2:n.2618del
NM_001371928.1:c.1551del MANE Select	NP_001358857.1:p.Thr518ProfsTer4