Canonical Allele Identifier: CA658822936

Gene: ARSB

Linked Data

• ClinVar Variation Id: 559767
• ClinVar RCV Id: RCV000677543
• dbSNP Id: rs1554089838
• MyVariant Identifiers: chr5:g.78280614_78280766del (hg19) ; chr5:g.78984791_78984943del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78984791_78984943del , CM000667.2:g.78984791_78984943del	GRCh38
NC_000005.9:g.78280614_78280766del , CM000667.1:g.78280614_78280766del	GRCh37
NC_000005.8:g.78316370_78316522del	NCBI36
NG_007089.1:g.6593_6745del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264914.10:c.307_312+147del
ENST00000565165.2:c.307_312+147del
ENST00000264914.8:c.307_312+147del
ENST00000396151.7:c.307_312+147del
ENST00000565165.1:c.307_312+147del
NM_000046.3:c.307_312+147del
NM_198709.2:c.307_312+147del
XM_005248506.3:c.307_312+147del
XM_006714615.2:c.307_312+147del
XM_011543390.1:c.307_312+147del
XM_011543391.1:c.307_312+147del
XM_011543392.1:c.307_312+147del
XM_011543393.1:c.307_312+147del
NM_000046.4:c.307_312+147del
XM_011543391.3:c.307_312+147del
XM_011543392.3:c.307_312+147del
XM_011543393.2:c.307_312+147del
XM_017009471.2:c.307_312+147del
XR_001742065.2:n.378_383+147del
XR_001742066.2:n.378_383+147del
NM_000046.5:c.307_312+147del
NM_198709.3:c.307_312+147del