Canonical Allele Identifier: CA2695199421

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2679029
• ClinVar RCV Id: RCV003474043

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489342del , CM000671.2:g.130489342del	GRCh38
NC_000009.11:g.133364729del , CM000671.1:g.133364729del	GRCh37
NC_000009.10:g.132354550del	NCBI36
NG_011542.1:g.49636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.848del MANE Select	ENSP00000253004.6:p.Glu283GlyfsTer13
ENST00000352480.9:c.848del	ENSP00000253004.6:p.Glu283GlyfsTer13
ENST00000372386.6:n.119del
ENST00000372393.7:c.848del	ENSP00000361469.2:p.Glu283GlyfsTer13
ENST00000372394.5:c.848del	ENSP00000361471.1:p.Glu283GlyfsTer13
ENST00000470849.4:n.573del
ENST00000492400.5:n.357del
ENST00000493984.6:n.625del
NM_000050.4:c.848del	NP_000041.2:p.Glu283GlyfsTer13
NM_054012.3:c.848del	NP_446464.1:p.Glu283GlyfsTer13
XM_005272200.2:c.848del	XP_005272257.1:p.Glu283GlyfsTer13
XM_011518705.1:c.962del	XP_011517007.1:p.Glu321GlyfsTer13
XM_005272200.3:c.848del	XP_005272257.1:p.Glu283GlyfsTer13
XM_011518705.2:c.962del	XP_011517007.1:p.Glu321GlyfsTer13
XM_017014729.1:c.944del	XP_016870218.1:p.Glu315GlyfsTer13
NM_054012.4:c.848del MANE Select	NP_446464.1:p.Glu283GlyfsTer13