Canonical Allele Identifier: CA1528880917

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14717008_14717010delinsCCA , CM000667.2:g.14717008_14717010delinsCCA	GRCh38
NC_000005.9:g.14717117_14717119delinsCCA , CM000667.1:g.14717117_14717119delinsCCA	GRCh37
NC_000005.8:g.14770117_14770119delinsCCA	NCBI36
NG_008273.1:g.159769_159771delinsTGG
NG_008273.2:g.159776_159778delinsTGG
NG_051625.1:g.61215_61217delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-175_1012-173delinsTGG MANE Select	ENSP00000284268.6:n.1012-175_1012-173delinsTGG
ENST00000284268.6:c.1012-175_1012-173delinsTGG	ENSP00000284268.6:n.1012-175_1012-173delinsTGG
ENST00000502585.1:n.79_81delinsTGG
NM_054027.4:c.1012-175_1012-173delinsTGG	NP_473368.1:n.1012-175_1012-173delinsTGG
NM_054027.5:c.1012-175_1012-173delinsTGG	NP_473368.1:n.1012-175_1012-173delinsTGG
XM_017009644.2:c.928-175_928-173delinsTGG	XP_016865133.1:n.928-175_928-173delinsTGG
NM_054027.6:c.1012-175_1012-173delinsTGG MANE Select	NP_473368.1:n.1012-175_1012-173delinsTGG