Canonical Allele Identifier: CA2499214689

Gene: AHDC1

Linked Data

• ClinVar Variation Id: 1048789
• ClinVar RCV Id: RCV001354044
• dbSNP Id: rs2148289299

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27550993dup , CM000663.2:g.27550993dup	GRCh38
NC_000001.10:g.27877504dup , CM000663.1:g.27877504dup	GRCh37
NC_000001.9:g.27750091dup	NCBI36
NG_034158.1:g.57504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247087.10:c.1125dup	ENSP00000247087.4:p.Pro376AlafsTer2
ENST00000642245.1:c.1125dup	ENSP00000495072.1:p.Pro376AlafsTer2
ENST00000642416.1:c.1125dup	ENSP00000494394.1:p.Pro376AlafsTer2
ENST00000643308.1:n.1939dup
ENST00000644989.1:c.1125dup	ENSP00000495665.1:p.Pro376AlafsTer2
ENST00000673934.1:c.1125dup MANE Select	ENSP00000501218.1:p.Pro376AlafsTer2
ENST00000247087.9:c.1125dup	ENSP00000247087.4:p.Pro376AlafsTer2
ENST00000374011.6:c.1125dup	ENSP00000363123.2:p.Pro376AlafsTer2
NM_001029882.3:c.1125dup	NP_001025053.1:p.Pro376AlafsTer2
XM_005245848.2:c.1125dup	XP_005245905.1:p.Pro376AlafsTer2
XM_005245849.2:c.1125dup	XP_005245906.1:p.Pro376AlafsTer2
XM_005245850.2:c.1125dup	XP_005245907.1:p.Pro376AlafsTer2
XM_005245851.2:c.1125dup	XP_005245908.1:p.Pro376AlafsTer2
XM_005245852.2:c.1125dup	XP_005245909.1:p.Pro376AlafsTer2
XM_011541255.1:c.1125dup	XP_011539557.1:p.Pro376AlafsTer2
XM_011541256.1:c.1125dup	XP_011539558.1:p.Pro376AlafsTer2
XM_011541257.1:c.1125dup	XP_011539559.1:p.Pro376AlafsTer2
XR_946609.1:n.2082dup
XM_005245848.3:c.1125dup	XP_005245905.1:p.Pro376AlafsTer2
XM_005245849.3:c.1125dup	XP_005245906.1:p.Pro376AlafsTer2
XM_005245850.3:c.1125dup	XP_005245907.1:p.Pro376AlafsTer2
XM_005245851.3:c.1125dup	XP_005245908.1:p.Pro376AlafsTer2
XM_005245852.3:c.1125dup	XP_005245909.1:p.Pro376AlafsTer2
XM_011541256.2:c.1125dup	XP_011539558.1:p.Pro376AlafsTer2
XM_011541257.2:c.1125dup	XP_011539559.1:p.Pro376AlafsTer2
XM_024446461.1:c.1125dup	XP_024302229.1:p.Pro376AlafsTer2
XR_946609.2:n.2192dup
NM_001371928.1:c.1125dup MANE Select	NP_001358857.1:p.Pro376AlafsTer2