Canonical Allele Identifier: CA2673314995

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871700-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871707_14871708del , CM000667.2:g.14871707_14871708del	GRCh38
NC_000005.9:g.14871816_14871817del , CM000667.1:g.14871816_14871817del	GRCh37
NC_000005.8:g.14924816_14924817del	NCBI36
NG_008273.1:g.5077_5078del
NG_008273.2:g.5084_5085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-255_-254del MANE Select	ENSP00000284268.6:n.-255_-254del
ENST00000284268.6:c.-255_-254del	ENSP00000284268.6:n.-255_-254del
ENST00000505140.1:c.-255_-254del	ENSP00000426332.1:n.-255_-254del
NM_054027.4:c.-255_-254del	NP_473368.1:n.-255_-254del
XM_011514067.1:c.-255_-254del	XP_011512369.1:n.-255_-254del
NM_054027.5:c.-255_-254del	NP_473368.1:n.-255_-254del
NM_054027.6:c.-255_-254del MANE Select	NP_473368.1:n.-255_-254del