Canonical Allele Identifier: CA2673310628

Gene: ANKH

Linked Data

• gnomAD v4: 5-14716945-CCTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716949_14716952del , CM000667.2:g.14716949_14716952del	GRCh38
NC_000005.9:g.14717058_14717061del , CM000667.1:g.14717058_14717061del	GRCh37
NC_000005.8:g.14770058_14770061del	NCBI36
NG_008273.1:g.159830_159833del
NG_008273.2:g.159837_159840del
NG_051625.1:g.61156_61159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-114_1012-111del MANE Select	ENSP00000284268.6:n.1012-114_1012-111del
ENST00000284268.6:c.1012-114_1012-111del	ENSP00000284268.6:n.1012-114_1012-111del
ENST00000502585.1:n.140_143del
NM_054027.4:c.1012-114_1012-111del	NP_473368.1:n.1012-114_1012-111del
NM_054027.5:c.1012-114_1012-111del	NP_473368.1:n.1012-114_1012-111del
XM_017009644.2:c.928-114_928-111del	XP_016865133.1:n.928-114_928-111del
NM_054027.6:c.1012-114_1012-111del MANE Select	NP_473368.1:n.1012-114_1012-111del