Canonical Allele Identifier: CA658822932

Gene: ARSB

Linked Data

• ClinVar Variation Id: 559791
• ClinVar RCV Id: RCV000677570
• dbSNP Id: rs1554088002
• MyVariant Identifiers: chr5:g.78264830del (hg19) ; chr5:g.78969007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78969009del , CM000667.2:g.78969009del	GRCh38
NC_000005.9:g.78264832del , CM000667.1:g.78264832del	GRCh37
NC_000005.8:g.78300588del	NCBI36
NG_007089.1:g.22528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.498del MANE Select	ENSP00000264914.4:p.Phe166LeufsTer18
ENST00000565165.2:c.498del	ENSP00000456339.2:p.Phe166LeufsTer18
ENST00000264914.8:c.498del	ENSP00000264914.4:p.Phe166LeufsTer18
ENST00000396151.7:c.498del	ENSP00000379455.3:p.Phe166LeufsTer18
ENST00000565165.1:c.498del	ENSP00000456339.1:p.Phe166LeufsTer18
NM_000046.3:c.498del	NP_000037.2:p.Phe166LeufsTer18
NM_198709.2:c.498del	NP_942002.1:p.Phe166LeufsTer18
XM_005248506.3:c.498del	XP_005248563.1:p.Phe166LeufsTer18
XM_006714615.2:c.498del	XP_006714678.1:p.Phe166LeufsTer18
XM_011543390.1:c.498del	XP_011541692.1:p.Phe166LeufsTer18
XM_011543391.1:c.498del	XP_011541693.1:p.Phe166LeufsTer18
XM_011543392.1:c.498del	XP_011541694.1:p.Phe166LeufsTer18
XM_011543393.1:c.498del	XP_011541695.1:p.Phe166LeufsTer18
NM_000046.4:c.498del	NP_000037.2:p.Phe166LeufsTer18
XM_011543391.3:c.498del	XP_011541693.1:p.Phe166LeufsTer18
XM_011543392.3:c.498del	XP_011541694.1:p.Phe166LeufsTer18
XM_011543393.2:c.498del	XP_011541695.1:p.Phe166LeufsTer18
XM_017009471.2:c.498del	XP_016864960.1:p.Phe166LeufsTer18
XR_001742065.2:n.569del
XR_001742066.2:n.569del
NM_000046.5:c.498del MANE Select	NP_000037.2:p.Phe166LeufsTer18
NM_198709.3:c.498del	NP_942002.1:p.Phe166LeufsTer18