Canonical Allele Identifier: CA2582341584

Gene: ARSB

Linked Data

• ClinVar Variation Id: 2582300
• ClinVar RCV Id: RCV003333266
• gnomAD v4: 5-78969139-A-AACACAGCTGGGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78969143_78969156dup , CM000667.2:g.78969143_78969156dup	GRCh38
NC_000005.9:g.78264966_78264979dup , CM000667.1:g.78264966_78264979dup	GRCh37
NC_000005.8:g.78300722_78300735dup	NCBI36
NG_007089.1:g.22382_22395dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264914.10:c.352_365dup MANE Select	ENSP00000264914.4:p.Pro123SerfsTer16
ENST00000565165.2:c.352_365dup	ENSP00000456339.2:p.Pro123SerfsTer16
ENST00000264914.8:c.352_365dup	ENSP00000264914.4:p.Pro123SerfsTer16
ENST00000396151.7:c.352_365dup	ENSP00000379455.3:p.Pro123SerfsTer16
ENST00000565165.1:c.352_365dup	ENSP00000456339.1:p.Pro123SerfsTer16
NM_000046.3:c.352_365dup	NP_000037.2:p.Pro123SerfsTer16
NM_198709.2:c.352_365dup	NP_942002.1:p.Pro123SerfsTer16
XM_005248506.3:c.352_365dup	XP_005248563.1:p.Pro123SerfsTer16
XM_006714615.2:c.352_365dup	XP_006714678.1:p.Pro123SerfsTer16
XM_011543390.1:c.352_365dup	XP_011541692.1:p.Pro123SerfsTer16
XM_011543391.1:c.352_365dup	XP_011541693.1:p.Pro123SerfsTer16
XM_011543392.1:c.352_365dup	XP_011541694.1:p.Pro123SerfsTer16
XM_011543393.1:c.352_365dup	XP_011541695.1:p.Pro123SerfsTer16
NM_000046.4:c.352_365dup	NP_000037.2:p.Pro123SerfsTer16
XM_011543391.3:c.352_365dup	XP_011541693.1:p.Pro123SerfsTer16
XM_011543392.3:c.352_365dup	XP_011541694.1:p.Pro123SerfsTer16
XM_011543393.2:c.352_365dup	XP_011541695.1:p.Pro123SerfsTer16
XM_017009471.2:c.352_365dup	XP_016864960.1:p.Pro123SerfsTer16
XR_001742065.2:n.423_436dup
XR_001742066.2:n.423_436dup
NM_000046.5:c.352_365dup MANE Select	NP_000037.2:p.Pro123SerfsTer16
NM_198709.3:c.352_365dup	NP_942002.1:p.Pro123SerfsTer16