Canonical Allele Identifier: CA2839403576

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716770dup , CM000667.2:g.14716770dup	GRCh38
NC_000005.9:g.14716879dup , CM000667.1:g.14716879dup	GRCh37
NC_000005.8:g.14769879dup	NCBI36
NG_008273.1:g.160010dup
NG_008273.2:g.160017dup
NG_051625.1:g.60977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1078dup MANE Select	ENSP00000284268.6:p.Asp360GlyfsTer?
ENST00000284268.6:c.1078dup	ENSP00000284268.6:p.Asp360GlyfsTer?
ENST00000502585.1:n.320dup
NM_054027.4:c.1078dup	NP_473368.1:p.Asp360GlyfsTer?
NM_054027.5:c.1078dup	NP_473368.1:p.Asp360GlyfsTer?
XM_017009644.2:c.994dup	XP_016865133.1:p.Asp332GlyfsTer?
NM_054027.6:c.1078dup MANE Select	NP_473368.1:p.Asp360GlyfsTer?