Canonical Allele Identifier: CA1528880919

Gene: ANKH

Linked Data

• dbSNP Id: rs1737492921

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14717011_14717012del , CM000667.2:g.14717011_14717012del	GRCh38
NC_000005.9:g.14717120_14717121del , CM000667.1:g.14717120_14717121del	GRCh37
NC_000005.8:g.14770120_14770121del	NCBI36
NG_008273.1:g.159769_159770del
NG_008273.2:g.159776_159777del
NG_051625.1:g.61218_61219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-175_1012-174del MANE Select	ENSP00000284268.6:n.1012-175_1012-174del
ENST00000284268.6:c.1012-175_1012-174del	ENSP00000284268.6:n.1012-175_1012-174del
ENST00000502585.1:n.79_80del
NM_054027.4:c.1012-175_1012-174del	NP_473368.1:n.1012-175_1012-174del
NM_054027.5:c.1012-175_1012-174del	NP_473368.1:n.1012-175_1012-174del
XM_017009644.2:c.928-175_928-174del	XP_016865133.1:n.928-175_928-174del
NM_054027.6:c.1012-175_1012-174del MANE Select	NP_473368.1:n.1012-175_1012-174del