Canonical Allele Identifier: CA1528949193

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871558_14871559delinsCG , CM000667.2:g.14871558_14871559delinsCG	GRCh38
NC_000005.9:g.14871667_14871668delinsCG , CM000667.1:g.14871667_14871668delinsCG	GRCh37
NC_000005.8:g.14924667_14924668delinsCG	NCBI36
NG_008273.1:g.5220_5221delinsCG
NG_008273.2:g.5227_5228delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-112_-111delinsCG MANE Select	ENSP00000284268.6:n.-112_-111delinsCG
ENST00000284268.6:c.-112_-111delinsCG	ENSP00000284268.6:n.-112_-111delinsCG
ENST00000505140.1:c.-112_-111delinsCG	ENSP00000426332.1:n.-112_-111delinsCG
NM_054027.4:c.-112_-111delinsCG	NP_473368.1:n.-112_-111delinsCG
XM_011514067.1:c.-112_-111delinsCG	XP_011512369.1:n.-112_-111delinsCG
NM_054027.5:c.-112_-111delinsCG	NP_473368.1:n.-112_-111delinsCG
NM_054027.6:c.-112_-111delinsCG MANE Select	NP_473368.1:n.-112_-111delinsCG