Canonical Allele Identifier: CA2531048268

Gene: ALG12

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913488del , CM000684.2:g.49913488del	GRCh38
NC_000022.10:g.50307136del , CM000684.1:g.50307136del	GRCh37
NC_000022.9:g.48693140del	NCBI36
NG_008927.1:g.9974del

Transcript Alleles

HGVS	Amino-acid change
ENST00000330817.11:c.195del MANE Select	ENSP00000333813.5:p.Arg66GlyfsTer8
ENST00000330817.10:c.195del	ENSP00000333813.5:p.Arg66GlyfsTer8
NM_024105.3:c.195del	NP_077010.1:p.Arg66GlyfsTer8
XM_011530369.1:c.195del	XP_011528671.1:p.Arg66GlyfsTer8
XM_011530370.1:c.195del	XP_011528672.1:p.Arg66GlyfsTer8
XM_011530371.1:c.195del	XP_011528673.1:p.Arg66GlyfsTer8
XM_011530371.2:c.195del	XP_011528673.1:p.Arg66GlyfsTer8
XM_017028936.1:c.195del	XP_016884425.1:p.Arg66GlyfsTer8
XM_017028937.1:c.195del	XP_016884426.1:p.Arg66GlyfsTer8
NM_024105.4:c.195del MANE Select	NP_077010.1:p.Arg66GlyfsTer8