Canonical Allele Identifier: CA2673314772

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871532-CGAGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871534_14871538del , CM000667.2:g.14871534_14871538del	GRCh38
NC_000005.9:g.14871643_14871647del , CM000667.1:g.14871643_14871647del	GRCh37
NC_000005.8:g.14924643_14924647del	NCBI36
NG_008273.1:g.5242_5246del
NG_008273.2:g.5249_5253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-90_-86del MANE Select	ENSP00000284268.6:n.-90_-86del
ENST00000284268.6:c.-90_-86del	ENSP00000284268.6:n.-90_-86del
ENST00000505140.1:c.-90_-86del	ENSP00000426332.1:n.-90_-86del
NM_054027.4:c.-90_-86del	NP_473368.1:n.-90_-86del
XM_011514067.1:c.-90_-86del	XP_011512369.1:n.-90_-86del
NM_054027.5:c.-90_-86del	NP_473368.1:n.-90_-86del
NM_054027.6:c.-90_-86del MANE Select	NP_473368.1:n.-90_-86del