Canonical Allele Identifier: CA1557703792
Gene: ARSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78969118_78969121delinsCAGG , CM000667.2:g.78969118_78969121delinsCAGG GRCh38
NC_000005.9:g.78264941_78264944delinsCAGG , CM000667.1:g.78264941_78264944delinsCAGG GRCh37
NC_000005.8:g.78300697_78300700delinsCAGG NCBI36
NG_007089.1:g.22414_22417delinsCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.384_387delinsCCTG MANE Select ENSP00000264914.4:p.Leu128=
ENST00000565165.2:c.384_387delinsCCTG ENSP00000456339.2:p.Leu128=
ENST00000264914.8:c.384_387delinsCCTG ENSP00000264914.4:p.Leu128=
ENST00000396151.7:c.384_387delinsCCTG ENSP00000379455.3:p.Leu128=
ENST00000565165.1:c.384_387delinsCCTG ENSP00000456339.1:p.Leu128=
NM_000046.3:c.384_387delinsCCTG NP_000037.2:p.Leu128=
NM_198709.2:c.384_387delinsCCTG NP_942002.1:p.Leu128=
XM_005248506.3:c.384_387delinsCCTG XP_005248563.1:p.Leu128=
XM_006714615.2:c.384_387delinsCCTG XP_006714678.1:p.Leu128=
XM_011543390.1:c.384_387delinsCCTG XP_011541692.1:p.Leu128=
XM_011543391.1:c.384_387delinsCCTG XP_011541693.1:p.Leu128=
XM_011543392.1:c.384_387delinsCCTG XP_011541694.1:p.Leu128=
XM_011543393.1:c.384_387delinsCCTG XP_011541695.1:p.Leu128=
NM_000046.4:c.384_387delinsCCTG NP_000037.2:p.Leu128=
XM_011543391.3:c.384_387delinsCCTG XP_011541693.1:p.Leu128=
XM_011543392.3:c.384_387delinsCCTG XP_011541694.1:p.Leu128=
XM_011543393.2:c.384_387delinsCCTG XP_011541695.1:p.Leu128=
XM_017009471.2:c.384_387delinsCCTG XP_016864960.1:p.Leu128=
XR_001742065.2:n.455_458delinsCCTG
XR_001742066.2:n.455_458delinsCCTG
NM_000046.5:c.384_387delinsCCTG MANE Select NP_000037.2:p.Leu128=
NM_198709.3:c.384_387delinsCCTG NP_942002.1:p.Leu128=