Canonical Allele Identifier: CA2843571895

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480419dup , CM000671.2:g.130480419dup	GRCh38
NC_000009.11:g.133355806dup , CM000671.1:g.133355806dup	GRCh37
NC_000009.10:g.132345627dup	NCBI36
NG_011542.1:g.40713dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.808dup MANE Select	ENSP00000253004.6:p.Glu270GlyfsTer?
ENST00000352480.9:c.808dup	ENSP00000253004.6:p.Glu270GlyfsTer?
ENST00000372386.6:n.79dup
ENST00000372393.7:c.808dup	ENSP00000361469.2:p.Glu270GlyfsTer?
ENST00000372394.5:c.808dup	ENSP00000361471.1:p.Glu270GlyfsTer?
ENST00000470849.4:n.533dup
ENST00000492400.5:n.317dup
ENST00000493984.6:n.585dup
NM_000050.4:c.808dup	NP_000041.2:p.Glu270GlyfsTer?
NM_054012.3:c.808dup	NP_446464.1:p.Glu270GlyfsTer?
XM_005272200.2:c.808dup	XP_005272257.1:p.Glu270GlyfsTer?
XM_011518705.1:c.922dup	XP_011517007.1:p.Glu308GlyfsTer?
XM_005272200.3:c.808dup	XP_005272257.1:p.Glu270GlyfsTer?
XM_011518705.2:c.922dup	XP_011517007.1:p.Glu308GlyfsTer?
XM_017014729.1:c.904dup	XP_016870218.1:p.Glu302GlyfsTer?
NM_054012.4:c.808dup MANE Select	NP_446464.1:p.Glu270GlyfsTer?