Canonical Allele Identifier: CA2674368564

Gene: ARSB

Linked Data

• gnomAD v4: 5-78964445-CTATAGCCCTTTTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78964447_78964460del , CM000667.2:g.78964447_78964460del	GRCh38
NC_000005.9:g.78260270_78260283del , CM000667.1:g.78260270_78260283del	GRCh37
NC_000005.8:g.78296026_78296039del	NCBI36
NG_007089.1:g.27076_27089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.647_660del MANE Select	ENSP00000264914.4:p.Thr216SerfsTer5
ENST00000565165.2:c.647_660del	ENSP00000456339.2:p.Thr216SerfsTer5
ENST00000264914.8:c.647_660del	ENSP00000264914.4:p.Thr216SerfsTer5
ENST00000396151.7:c.647_660del	ENSP00000379455.3:p.Thr216SerfsTer5
ENST00000565165.1:c.647_660del	ENSP00000456339.1:p.Thr216SerfsTer5
NM_000046.3:c.647_660del	NP_000037.2:p.Thr216SerfsTer5
NM_198709.2:c.647_660del	NP_942002.1:p.Thr216SerfsTer5
XM_005248506.3:c.647_660del	XP_005248563.1:p.Thr216SerfsTer5
XM_006714615.2:c.647_660del	XP_006714678.1:p.Thr216SerfsTer5
XM_011543390.1:c.647_660del	XP_011541692.1:p.Thr216SerfsTer5
XM_011543391.1:c.647_660del	XP_011541693.1:p.Thr216SerfsTer5
XM_011543392.1:c.647_660del	XP_011541694.1:p.Thr216SerfsTer5
XM_011543393.1:c.647_660del	XP_011541695.1:p.Thr216SerfsTer5
NM_000046.4:c.647_660del	NP_000037.2:p.Thr216SerfsTer5
XM_011543391.3:c.647_660del	XP_011541693.1:p.Thr216SerfsTer5
XM_011543392.3:c.647_660del	XP_011541694.1:p.Thr216SerfsTer5
XM_011543393.2:c.647_660del	XP_011541695.1:p.Thr216SerfsTer5
XM_017009471.2:c.647_660del	XP_016864960.1:p.Thr216SerfsTer5
XR_001742065.2:n.718_731del
XR_001742066.2:n.718_731del
NM_000046.5:c.647_660del MANE Select	NP_000037.2:p.Thr216SerfsTer5
NM_198709.3:c.647_660del	NP_942002.1:p.Thr216SerfsTer5