Canonical Allele Identifier: CA658821963

Gene: ARSB

Linked Data

• ClinVar Variation Id: 559667
• ClinVar RCV Id: RCV000677441
• dbSNP Id: rs1554079302
• MyVariant Identifiers: chr5:g.78181513del (hg19) ; chr5:g.78885690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78885692del , CM000667.2:g.78885692del	GRCh38
NC_000005.9:g.78181515del , CM000667.1:g.78181515del	GRCh37
NC_000005.8:g.78217271del	NCBI36
NG_007089.1:g.105845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1036del MANE Select	ENSP00000264914.4:p.Glu346SerfsTer13
ENST00000521800.2:n.218del
ENST00000565165.2:c.1036del	ENSP00000456339.2:p.Glu346SerfsTer13
ENST00000264914.8:c.1036del	ENSP00000264914.4:p.Glu346SerfsTer13
ENST00000396151.7:c.1036del	ENSP00000379455.3:p.Glu346SerfsTer13
ENST00000521800.1:n.141del
ENST00000565165.1:c.1036del	ENSP00000456339.1:p.Glu346SerfsTer13
NM_000046.3:c.1036del	NP_000037.2:p.Glu346SerfsTer13
NM_198709.2:c.1036del	NP_942002.1:p.Glu346SerfsTer13
XM_005248506.3:c.1036del	XP_005248563.1:p.Glu346SerfsTer13
XM_011543390.1:c.1036del	XP_011541692.1:p.Glu346SerfsTer13
XM_011543391.1:c.1036del	XP_011541693.1:p.Glu346SerfsTer13
XM_011543392.1:c.1036del	XP_011541694.1:p.Glu346SerfsTer13
XM_011543393.1:c.1036del	XP_011541695.1:p.Glu346SerfsTer13
NM_000046.4:c.1036del	NP_000037.2:p.Glu346SerfsTer13
XM_011543391.3:c.1036del	XP_011541693.1:p.Glu346SerfsTer13
XM_011543392.3:c.1036del	XP_011541694.1:p.Glu346SerfsTer13
XM_011543393.2:c.1036del	XP_011541695.1:p.Glu346SerfsTer13
XM_017009471.2:c.1036del	XP_016864960.1:p.Glu346SerfsTer13
XR_001742065.2:n.1107del
XR_001742066.2:n.1107del
NM_000046.5:c.1036del MANE Select	NP_000037.2:p.Glu346SerfsTer13
NM_198709.3:c.1036del	NP_942002.1:p.Glu346SerfsTer13