Canonical Allele Identifier: CA2673310718

Gene: ANKH

Linked Data

• gnomAD v4: 5-14716997-CTCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14717001_14717005del , CM000667.2:g.14717001_14717005del	GRCh38
NC_000005.9:g.14717110_14717114del , CM000667.1:g.14717110_14717114del	GRCh37
NC_000005.8:g.14770110_14770114del	NCBI36
NG_008273.1:g.159777_159781del
NG_008273.2:g.159784_159788del
NG_051625.1:g.61208_61212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-167_1012-163del MANE Select	ENSP00000284268.6:n.1012-167_1012-163del
ENST00000284268.6:c.1012-167_1012-163del	ENSP00000284268.6:n.1012-167_1012-163del
ENST00000502585.1:n.87_91del
NM_054027.4:c.1012-167_1012-163del	NP_473368.1:n.1012-167_1012-163del
NM_054027.5:c.1012-167_1012-163del	NP_473368.1:n.1012-167_1012-163del
XM_017009644.2:c.928-167_928-163del	XP_016865133.1:n.928-167_928-163del
NM_054027.6:c.1012-167_1012-163del MANE Select	NP_473368.1:n.1012-167_1012-163del