Canonical Allele Identifier: CA2673314724

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871511-AGGGGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871512_14871517del , CM000667.2:g.14871512_14871517del	GRCh38
NC_000005.9:g.14871621_14871626del , CM000667.1:g.14871621_14871626del	GRCh37
NC_000005.8:g.14924621_14924626del	NCBI36
NG_008273.1:g.5262_5267del
NG_008273.2:g.5269_5274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-70_-65del MANE Select	ENSP00000284268.6:n.-70_-65del
ENST00000284268.6:c.-70_-65del	ENSP00000284268.6:n.-70_-65del
ENST00000505140.1:c.-70_-65del	ENSP00000426332.1:n.-70_-65del
NM_054027.4:c.-70_-65del	NP_473368.1:n.-70_-65del
XM_011514067.1:c.-70_-65del	XP_011512369.1:n.-70_-65del
NM_054027.5:c.-70_-65del	NP_473368.1:n.-70_-65del
NM_054027.6:c.-70_-65del MANE Select	NP_473368.1:n.-70_-65del