Canonical Allele Identifier: CA2673310556

Gene: ANKH

Linked Data

• gnomAD v4: 5-14716894-C-CAGATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716895_14716900dup , CM000667.2:g.14716895_14716900dup	GRCh38
NC_000005.9:g.14717004_14717009dup , CM000667.1:g.14717004_14717009dup	GRCh37
NC_000005.8:g.14770004_14770009dup	NCBI36
NG_008273.1:g.159879_159884dup
NG_008273.2:g.159886_159891dup
NG_051625.1:g.61102_61107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-65_1012-60dup MANE Select	ENSP00000284268.6:n.1012-65_1012-60dup
ENST00000284268.6:c.1012-65_1012-60dup	ENSP00000284268.6:n.1012-65_1012-60dup
ENST00000502585.1:n.189_194dup
NM_054027.4:c.1012-65_1012-60dup	NP_473368.1:n.1012-65_1012-60dup
NM_054027.5:c.1012-65_1012-60dup	NP_473368.1:n.1012-65_1012-60dup
XM_017009644.2:c.928-65_928-60dup	XP_016865133.1:n.928-65_928-60dup
NM_054027.6:c.1012-65_1012-60dup MANE Select	NP_473368.1:n.1012-65_1012-60dup