Canonical Allele Identifier: CA1073473749

Gene: ANKH

Linked Data

• dbSNP Id: rs1735826671
• gnomAD v3: 5-14871526-AC-A
• gnomAD v4: 5-14871526-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871527del , CM000667.2:g.14871527del	GRCh38
NC_000005.9:g.14871636del , CM000667.1:g.14871636del	GRCh37
NC_000005.8:g.14924636del	NCBI36
NG_008273.1:g.5252del
NG_008273.2:g.5259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-80del MANE Select	ENSP00000284268.6:n.-80del
ENST00000284268.6:c.-80del	ENSP00000284268.6:n.-80del
ENST00000505140.1:c.-80del	ENSP00000426332.1:n.-80del
NM_054027.4:c.-80del	NP_473368.1:n.-80del
XM_011514067.1:c.-80del	XP_011512369.1:n.-80del
NM_054027.5:c.-80del	NP_473368.1:n.-80del
NM_054027.6:c.-80del MANE Select	NP_473368.1:n.-80del