Canonical Allele Identifier: CA1528880880

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716932_14716933delinsGA , CM000667.2:g.14716932_14716933delinsGA	GRCh38
NC_000005.9:g.14717041_14717042delinsGA , CM000667.1:g.14717041_14717042delinsGA	GRCh37
NC_000005.8:g.14770041_14770042delinsGA	NCBI36
NG_008273.1:g.159846_159847delinsTC
NG_008273.2:g.159853_159854delinsTC
NG_051625.1:g.61139_61140delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-98_1012-97delinsTC MANE Select	ENSP00000284268.6:n.1012-98_1012-97delinsTC
ENST00000284268.6:c.1012-98_1012-97delinsTC	ENSP00000284268.6:n.1012-98_1012-97delinsTC
ENST00000502585.1:n.156_157delinsTC
NM_054027.4:c.1012-98_1012-97delinsTC	NP_473368.1:n.1012-98_1012-97delinsTC
NM_054027.5:c.1012-98_1012-97delinsTC	NP_473368.1:n.1012-98_1012-97delinsTC
XM_017009644.2:c.928-98_928-97delinsTC	XP_016865133.1:n.928-98_928-97delinsTC
NM_054027.6:c.1012-98_1012-97delinsTC MANE Select	NP_473368.1:n.1012-98_1012-97delinsTC