Canonical Allele Identifier: CA1528880909

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716985_14716989delinsCTGCT , CM000667.2:g.14716985_14716989delinsCTGCT	GRCh38
NC_000005.9:g.14717094_14717098delinsCTGCT , CM000667.1:g.14717094_14717098delinsCTGCT	GRCh37
NC_000005.8:g.14770094_14770098delinsCTGCT	NCBI36
NG_008273.1:g.159790_159794delinsAGCAG
NG_008273.2:g.159797_159801delinsAGCAG
NG_051625.1:g.61192_61196delinsCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-154_1012-150delinsAGCAG MANE Select	ENSP00000284268.6:n.1012-154_1012-150delinsAGCAG
ENST00000284268.6:c.1012-154_1012-150delinsAGCAG	ENSP00000284268.6:n.1012-154_1012-150delinsAGCAG
ENST00000502585.1:n.100_104delinsAGCAG
NM_054027.4:c.1012-154_1012-150delinsAGCAG	NP_473368.1:n.1012-154_1012-150delinsAGCAG
NM_054027.5:c.1012-154_1012-150delinsAGCAG	NP_473368.1:n.1012-154_1012-150delinsAGCAG
XM_017009644.2:c.928-154_928-150delinsAGCAG	XP_016865133.1:n.928-154_928-150delinsAGCAG
NM_054027.6:c.1012-154_1012-150delinsAGCAG MANE Select	NP_473368.1:n.1012-154_1012-150delinsAGCAG