Canonical Allele Identifier: CA2578273515

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871346del , CM000667.2:g.14871346del	GRCh38
NC_000005.9:g.14871455del , CM000667.1:g.14871455del	GRCh37
NC_000005.8:g.14924455del	NCBI36
NG_008273.1:g.5436del
NG_008273.2:g.5443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.96+9del MANE Select	ENSP00000284268.6:n.96+9del
ENST00000284268.6:c.96+9del	ENSP00000284268.6:n.96+9del
ENST00000505140.1:c.105del	ENSP00000426332.1:p.Gly36AlafsTer?
ENST00000513115.1:n.121+9del
NM_054027.4:c.96+9del	NP_473368.1:n.96+9del
XM_011514067.1:c.96+9del	XP_011512369.1:n.96+9del
NM_054027.5:c.96+9del	NP_473368.1:n.96+9del
NM_054027.6:c.96+9del MANE Select	NP_473368.1:n.96+9del