Canonical Allele Identifier: CA2573132237

Gene: AHDC1

Linked Data

• ClinVar Variation Id: 1433194
• ClinVar RCV Id: RCV001960048
• dbSNP Id: rs2148280961

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27550005_27550006dup , CM000663.2:g.27550005_27550006dup	GRCh38
NC_000001.10:g.27876516_27876517dup , CM000663.1:g.27876516_27876517dup	GRCh37
NC_000001.9:g.27749103_27749104dup	NCBI36
NG_034158.1:g.58490_58491dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000247087.10:c.2111_2112dup	ENSP00000247087.4:p.Val705TrpfsTer28
ENST00000642245.1:c.2111_2112dup	ENSP00000495072.1:p.Val705TrpfsTer28
ENST00000642416.1:c.2111_2112dup	ENSP00000494394.1:p.Val705TrpfsTer28
ENST00000644989.1:c.2111_2112dup	ENSP00000495665.1:p.Val705TrpfsTer28
ENST00000673934.1:c.2111_2112dup MANE Select	ENSP00000501218.1:p.Val705TrpfsTer28
ENST00000247087.9:c.2111_2112dup	ENSP00000247087.4:p.Val705TrpfsTer28
ENST00000374011.6:c.2111_2112dup	ENSP00000363123.2:p.Val705TrpfsTer28
NM_001029882.3:c.2111_2112dup	NP_001025053.1:p.Val705TrpfsTer28
XM_005245848.2:c.2111_2112dup	XP_005245905.1:p.Val705TrpfsTer28
XM_005245849.2:c.2111_2112dup	XP_005245906.1:p.Val705TrpfsTer28
XM_005245850.2:c.2111_2112dup	XP_005245907.1:p.Val705TrpfsTer28
XM_005245851.2:c.2111_2112dup	XP_005245908.1:p.Val705TrpfsTer28
XM_005245852.2:c.2111_2112dup	XP_005245909.1:p.Val705TrpfsTer28
XM_011541255.1:c.2111_2112dup	XP_011539557.1:p.Val705TrpfsTer28
XM_011541256.1:c.2111_2112dup	XP_011539558.1:p.Val705TrpfsTer28
XM_011541257.1:c.2111_2112dup	XP_011539559.1:p.Val705TrpfsTer28
XR_946609.1:n.3068_3069dup
XM_005245848.3:c.2111_2112dup	XP_005245905.1:p.Val705TrpfsTer28
XM_005245849.3:c.2111_2112dup	XP_005245906.1:p.Val705TrpfsTer28
XM_005245850.3:c.2111_2112dup	XP_005245907.1:p.Val705TrpfsTer28
XM_005245851.3:c.2111_2112dup	XP_005245908.1:p.Val705TrpfsTer28
XM_005245852.3:c.2111_2112dup	XP_005245909.1:p.Val705TrpfsTer28
XM_011541256.2:c.2111_2112dup	XP_011539558.1:p.Val705TrpfsTer28
XM_011541257.2:c.2111_2112dup	XP_011539559.1:p.Val705TrpfsTer28
XM_024446461.1:c.2111_2112dup	XP_024302229.1:p.Val705TrpfsTer28
XR_946609.2:n.3178_3179dup
NM_001371928.1:c.2111_2112dup MANE Select	NP_001358857.1:p.Val705TrpfsTer28