Canonical Allele Identifier: CA2673314730

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871514-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871516_14871517del , CM000667.2:g.14871516_14871517del	GRCh38
NC_000005.9:g.14871625_14871626del , CM000667.1:g.14871625_14871626del	GRCh37
NC_000005.8:g.14924625_14924626del	NCBI36
NG_008273.1:g.5263_5264del
NG_008273.2:g.5270_5271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-69_-68del MANE Select	ENSP00000284268.6:n.-69_-68del
ENST00000284268.6:c.-69_-68del	ENSP00000284268.6:n.-69_-68del
ENST00000505140.1:c.-69_-68del	ENSP00000426332.1:n.-69_-68del
NM_054027.4:c.-69_-68del	NP_473368.1:n.-69_-68del
XM_011514067.1:c.-69_-68del	XP_011512369.1:n.-69_-68del
NM_054027.5:c.-69_-68del	NP_473368.1:n.-69_-68del
NM_054027.6:c.-69_-68del MANE Select	NP_473368.1:n.-69_-68del