Canonical Allele Identifier: CA2739291928

Gene: AHDC1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27550712_27550713insA , CM000663.2:g.27550712_27550713insA	GRCh38
NC_000001.10:g.27877223_27877224insA , CM000663.1:g.27877223_27877224insA	GRCh37
NC_000001.9:g.27749810_27749811insA	NCBI36
NG_034158.1:g.57782_57783insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247087.10:c.1403_1404insT	ENSP00000247087.4:p.Arg469ProfsTer?
ENST00000642245.1:c.1403_1404insT	ENSP00000495072.1:p.Arg469ProfsTer?
ENST00000642416.1:c.1403_1404insT	ENSP00000494394.1:p.Arg469ProfsTer?
ENST00000644989.1:c.1403_1404insT	ENSP00000495665.1:p.Arg469ProfsTer?
ENST00000673934.1:c.1403_1404insT MANE Select	ENSP00000501218.1:p.Arg469ProfsTer?
ENST00000247087.9:c.1403_1404insT	ENSP00000247087.4:p.Arg469ProfsTer?
ENST00000374011.6:c.1403_1404insT	ENSP00000363123.2:p.Arg469ProfsTer?
NM_001029882.3:c.1403_1404insT	NP_001025053.1:p.Arg469ProfsTer?
XM_005245848.2:c.1403_1404insT	XP_005245905.1:p.Arg469ProfsTer?
XM_005245849.2:c.1403_1404insT	XP_005245906.1:p.Arg469ProfsTer?
XM_005245850.2:c.1403_1404insT	XP_005245907.1:p.Arg469ProfsTer?
XM_005245851.2:c.1403_1404insT	XP_005245908.1:p.Arg469ProfsTer?
XM_005245852.2:c.1403_1404insT	XP_005245909.1:p.Arg469ProfsTer?
XM_011541255.1:c.1403_1404insT	XP_011539557.1:p.Arg469ProfsTer?
XM_011541256.1:c.1403_1404insT	XP_011539558.1:p.Arg469ProfsTer?
XM_011541257.1:c.1403_1404insT	XP_011539559.1:p.Arg469ProfsTer?
XR_946609.1:n.2360_2361insT
XM_005245848.3:c.1403_1404insT	XP_005245905.1:p.Arg469ProfsTer?
XM_005245849.3:c.1403_1404insT	XP_005245906.1:p.Arg469ProfsTer?
XM_005245850.3:c.1403_1404insT	XP_005245907.1:p.Arg469ProfsTer?
XM_005245851.3:c.1403_1404insT	XP_005245908.1:p.Arg469ProfsTer?
XM_005245852.3:c.1403_1404insT	XP_005245909.1:p.Arg469ProfsTer?
XM_011541256.2:c.1403_1404insT	XP_011539558.1:p.Arg469ProfsTer?
XM_011541257.2:c.1403_1404insT	XP_011539559.1:p.Arg469ProfsTer?
XM_024446461.1:c.1403_1404insT	XP_024302229.1:p.Arg469ProfsTer?
XR_946609.2:n.2470_2471insT
NM_001371928.1:c.1403_1404insT MANE Select	NP_001358857.1:p.Arg469ProfsTer?