Canonical Allele Identifier: CA2673314671

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871466-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871470del , CM000667.2:g.14871470del	GRCh38
NC_000005.9:g.14871579del , CM000667.1:g.14871579del	GRCh37
NC_000005.8:g.14924579del	NCBI36
NG_008273.1:g.5312del
NG_008273.2:g.5319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-20del MANE Select	ENSP00000284268.6:n.-20del
ENST00000284268.6:c.-20del	ENSP00000284268.6:n.-20del
ENST00000505140.1:c.-20del	ENSP00000426332.1:n.-20del
ENST00000513115.1:n.6del
NM_054027.4:c.-20del	NP_473368.1:n.-20del
XM_011514067.1:c.-20del	XP_011512369.1:n.-20del
NM_054027.5:c.-20del	NP_473368.1:n.-20del
NM_054027.6:c.-20del MANE Select	NP_473368.1:n.-20del