Canonical Allele Identifier: CA2673310669

Gene: ANKH

Linked Data

• gnomAD v4: 5-14716970-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716973del , CM000667.2:g.14716973del	GRCh38
NC_000005.9:g.14717082del , CM000667.1:g.14717082del	GRCh37
NC_000005.8:g.14770082del	NCBI36
NG_008273.1:g.159808del
NG_008273.2:g.159815del
NG_051625.1:g.61180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-136del MANE Select	ENSP00000284268.6:n.1012-136del
ENST00000284268.6:c.1012-136del	ENSP00000284268.6:n.1012-136del
ENST00000502585.1:n.118del
NM_054027.4:c.1012-136del	NP_473368.1:n.1012-136del
NM_054027.5:c.1012-136del	NP_473368.1:n.1012-136del
XM_017009644.2:c.928-136del	XP_016865133.1:n.928-136del
NM_054027.6:c.1012-136del MANE Select	NP_473368.1:n.1012-136del