Canonical Allele Identifier: CA2695199419

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458472del , CM000671.2:g.130458472del	GRCh38
NC_000009.11:g.133333859del , CM000671.1:g.133333859del	GRCh37
NC_000009.10:g.132323680del	NCBI36
NG_011542.1:g.18766del

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.246del MANE Select	NP_446464.1:p.Tyr83MetfsTer?
ENST00000352480.10:c.246del MANE Select	ENSP00000253004.6:p.Tyr83MetfsTer?
NM_000050.4:c.246del	NP_000041.2:p.Tyr83MetfsTer?
NM_054012.3:c.246del	NP_446464.1:p.Tyr83MetfsTer?
ENST00000352480.9:c.246del	ENSP00000253004.6:p.Tyr83MetfsTer?
ENST00000372393.7:c.246del	ENSP00000361469.2:p.Tyr83MetfsTer?
ENST00000372394.5:c.246del	ENSP00000361471.1:p.Tyr83MetfsTer?
ENST00000422569.5:c.246del	ENSP00000394212.1:p.Tyr83MetfsTer?
ENST00000443588.1:c.246del	ENSP00000397785.1:p.Tyr83MetfsTer?
XM_005272200.2:c.246del	XP_005272257.1:p.Tyr83MetfsTer?
XM_005272200.3:c.246del	XP_005272257.1:p.Tyr83MetfsTer?
XM_011518705.1:c.360del	XP_011517007.1:p.Tyr121MetfsTer?
XM_011518705.2:c.360del	XP_011517007.1:p.Tyr121MetfsTer?
XM_017014729.1:c.342del	XP_016870218.1:p.Tyr115MetfsTer?