Canonical Allele Identifier: CA1528880824

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716851_14716855delinsTCAAA , CM000667.2:g.14716851_14716855delinsTCAAA	GRCh38
NC_000005.9:g.14716960_14716964delinsTCAAA , CM000667.1:g.14716960_14716964delinsTCAAA	GRCh37
NC_000005.8:g.14769960_14769964delinsTCAAA	NCBI36
NG_008273.1:g.159924_159928delinsTTTGA
NG_008273.2:g.159931_159935delinsTTTGA
NG_051625.1:g.61058_61062delinsTCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-20_1012-16delinsTTTGA MANE Select	ENSP00000284268.6:n.1012-20_1012-16delinsTTTGA
ENST00000284268.6:c.1012-20_1012-16delinsTTTGA	ENSP00000284268.6:n.1012-20_1012-16delinsTTTGA
ENST00000502585.1:n.234_238delinsTTTGA
NM_054027.4:c.1012-20_1012-16delinsTTTGA	NP_473368.1:n.1012-20_1012-16delinsTTTGA
NM_054027.5:c.1012-20_1012-16delinsTTTGA	NP_473368.1:n.1012-20_1012-16delinsTTTGA
XM_017009644.2:c.928-20_928-16delinsTTTGA	XP_016865133.1:n.928-20_928-16delinsTTTGA
NM_054027.6:c.1012-20_1012-16delinsTTTGA MANE Select	NP_473368.1:n.1012-20_1012-16delinsTTTGA