Canonical Allele Identifier: CA2580079839

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1724653
• ClinVar RCV Id: RCV002309921

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489338_130489344del , CM000671.2:g.130489338_130489344del	GRCh38
NC_000009.11:g.133364725_133364731del , CM000671.1:g.133364725_133364731del	GRCh37
NC_000009.10:g.132354546_132354552del	NCBI36
NG_011542.1:g.49632_49638del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.844_850del MANE Select	ENSP00000253004.6:p.Tyr282ProfsTer12
ENST00000352480.9:c.844_850del	ENSP00000253004.6:p.Tyr282ProfsTer12
ENST00000372386.6:n.115_121del
ENST00000372393.7:c.844_850del	ENSP00000361469.2:p.Tyr282ProfsTer12
ENST00000372394.5:c.844_850del	ENSP00000361471.1:p.Tyr282ProfsTer12
ENST00000470849.4:n.569_575del
ENST00000492400.5:n.353_359del
ENST00000493984.6:n.621_627del
NM_000050.4:c.844_850del	NP_000041.2:p.Tyr282ProfsTer12
NM_054012.3:c.844_850del	NP_446464.1:p.Tyr282ProfsTer12
XM_005272200.2:c.844_850del	XP_005272257.1:p.Tyr282ProfsTer12
XM_011518705.1:c.958_964del	XP_011517007.1:p.Tyr320ProfsTer12
XM_005272200.3:c.844_850del	XP_005272257.1:p.Tyr282ProfsTer12
XM_011518705.2:c.958_964del	XP_011517007.1:p.Tyr320ProfsTer12
XM_017014729.1:c.940_946del	XP_016870218.1:p.Tyr314ProfsTer12
NM_054012.4:c.844_850del MANE Select	NP_446464.1:p.Tyr282ProfsTer12