Canonical Allele Identifier: CA1528880910

Gene: ANKH

Linked Data

• dbSNP Id: rs1737492053
• gnomAD v4: 5-14716985-CTGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716992_14716995del , CM000667.2:g.14716992_14716995del	GRCh38
NC_000005.9:g.14717101_14717104del , CM000667.1:g.14717101_14717104del	GRCh37
NC_000005.8:g.14770101_14770104del	NCBI36
NG_008273.1:g.159790_159793del
NG_008273.2:g.159797_159800del
NG_051625.1:g.61199_61202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-154_1012-151del MANE Select	ENSP00000284268.6:n.1012-154_1012-151del
ENST00000284268.6:c.1012-154_1012-151del	ENSP00000284268.6:n.1012-154_1012-151del
ENST00000502585.1:n.100_103del
NM_054027.4:c.1012-154_1012-151del	NP_473368.1:n.1012-154_1012-151del
NM_054027.5:c.1012-154_1012-151del	NP_473368.1:n.1012-154_1012-151del
XM_017009644.2:c.928-154_928-151del	XP_016865133.1:n.928-154_928-151del
NM_054027.6:c.1012-154_1012-151del MANE Select	NP_473368.1:n.1012-154_1012-151del