Canonical Allele Identifier: CA1528880912

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716996_14716998delinsACT , CM000667.2:g.14716996_14716998delinsACT	GRCh38
NC_000005.9:g.14717105_14717107delinsACT , CM000667.1:g.14717105_14717107delinsACT	GRCh37
NC_000005.8:g.14770105_14770107delinsACT	NCBI36
NG_008273.1:g.159781_159783delinsAGT
NG_008273.2:g.159788_159790delinsAGT
NG_051625.1:g.61203_61205delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-163_1012-161delinsAGT MANE Select	ENSP00000284268.6:n.1012-163_1012-161delinsAGT
ENST00000284268.6:c.1012-163_1012-161delinsAGT	ENSP00000284268.6:n.1012-163_1012-161delinsAGT
ENST00000502585.1:n.91_93delinsAGT
NM_054027.4:c.1012-163_1012-161delinsAGT	NP_473368.1:n.1012-163_1012-161delinsAGT
NM_054027.5:c.1012-163_1012-161delinsAGT	NP_473368.1:n.1012-163_1012-161delinsAGT
XM_017009644.2:c.928-163_928-161delinsAGT	XP_016865133.1:n.928-163_928-161delinsAGT
NM_054027.6:c.1012-163_1012-161delinsAGT MANE Select	NP_473368.1:n.1012-163_1012-161delinsAGT