Canonical Allele Identifier: CA1139658899

Gene: ARSB

Linked Data

• ClinVar Variation Id: 952620
• ClinVar RCV Id: RCV001224761
• dbSNP Id: rs1747980506

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78885583_78885587del , CM000667.2:g.78885583_78885587del	GRCh38
NC_000005.9:g.78181406_78181410del , CM000667.1:g.78181406_78181410del	GRCh37
NC_000005.8:g.78217162_78217166del	NCBI36
NG_007089.1:g.105949_105953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1140_1142+2del
ENST00000521800.2:n.322_324+2del
ENST00000565165.2:c.1140_1144del	ENSP00000456339.2:p.Arg381ProfsTer?
ENST00000264914.8:c.1140_1142+2del
ENST00000396151.7:c.1140_1142+2del
ENST00000521800.1:n.245_247+2del
ENST00000565165.1:c.1140_1142+2del
NM_000046.3:c.1140_1142+2del
NM_198709.2:c.1140_1142+2del
XM_005248506.3:c.1140_1142+2del
XM_011543390.1:c.1140_1142+2del
XM_011543391.1:c.1140_1142+2del
XM_011543392.1:c.1140_1142+2del
XM_011543393.1:c.1140_1142+2del
NM_000046.4:c.1140_1142+2del
XM_011543391.3:c.1140_1142+2del
XM_011543392.3:c.1140_1142+2del
XM_011543393.2:c.1140_1142+2del
XM_017009471.2:c.1140_1142+2del
XR_001742065.2:n.1211_1213+2del
XR_001742066.2:n.1211_1213+2del
NM_000046.5:c.1140_1142+2del
NM_198709.3:c.1140_1142+2del