Canonical Allele Identifier: CA2695211650

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452328dup , CM000671.2:g.130452328dup	GRCh38
NC_000009.11:g.133327715dup , CM000671.1:g.133327715dup	GRCh37
NC_000009.10:g.132317536dup	NCBI36
NG_011542.1:g.12622dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.100dup MANE Select	ENSP00000253004.6:p.Tyr34LeufsTer29
ENST00000352480.9:c.100dup	ENSP00000253004.6:p.Tyr34LeufsTer29
ENST00000372393.7:c.100dup	ENSP00000361469.2:p.Tyr34LeufsTer29
ENST00000372394.5:c.100dup	ENSP00000361471.1:p.Tyr34LeufsTer29
ENST00000422569.5:c.100dup	ENSP00000394212.1:p.Tyr34LeufsTer29
ENST00000443588.1:c.100dup	ENSP00000397785.1:p.Tyr34LeufsTer29
NM_000050.4:c.100dup	NP_000041.2:p.Tyr34LeufsTer29
NM_054012.3:c.100dup	NP_446464.1:p.Tyr34LeufsTer29
XM_005272200.2:c.100dup	XP_005272257.1:p.Tyr34LeufsTer29
XM_011518705.1:c.214dup	XP_011517007.1:p.Tyr72LeufsTer29
XM_005272200.3:c.100dup	XP_005272257.1:p.Tyr34LeufsTer29
XM_011518705.2:c.214dup	XP_011517007.1:p.Tyr72LeufsTer29
XM_017014729.1:c.196dup	XP_016870218.1:p.Tyr66LeufsTer29
NM_054012.4:c.100dup MANE Select	NP_446464.1:p.Tyr34LeufsTer29