Canonical Allele Identifier: CA2578345444

Gene: ARSB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78885811_78885813del , CM000667.2:g.78885811_78885813del	GRCh38
NC_000005.9:g.78181634_78181636del , CM000667.1:g.78181634_78181636del	GRCh37
NC_000005.8:g.78217390_78217392del	NCBI36
NG_007089.1:g.105722_105724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.913_915del MANE Select	ENSP00000264914.4:p.Thr305del
ENST00000521800.2:n.95_97del
ENST00000565165.2:c.913_915del	ENSP00000456339.2:p.Thr305del
ENST00000264914.8:c.913_915del	ENSP00000264914.4:p.Thr305del
ENST00000396151.7:c.913_915del	ENSP00000379455.3:p.Thr305del
ENST00000521800.1:n.18_20del
ENST00000565165.1:c.913_915del	ENSP00000456339.1:p.Thr305del
NM_000046.3:c.913_915del	NP_000037.2:p.Thr305del
NM_198709.2:c.913_915del	NP_942002.1:p.Thr305del
XM_005248506.3:c.913_915del	XP_005248563.1:p.Thr305del
XM_011543390.1:c.913_915del	XP_011541692.1:p.Thr305del
XM_011543391.1:c.913_915del	XP_011541693.1:p.Thr305del
XM_011543392.1:c.913_915del	XP_011541694.1:p.Thr305del
XM_011543393.1:c.913_915del	XP_011541695.1:p.Thr305del
NM_000046.4:c.913_915del	NP_000037.2:p.Thr305del
XM_011543391.3:c.913_915del	XP_011541693.1:p.Thr305del
XM_011543392.3:c.913_915del	XP_011541694.1:p.Thr305del
XM_011543393.2:c.913_915del	XP_011541695.1:p.Thr305del
XM_017009471.2:c.913_915del	XP_016864960.1:p.Thr305del
XR_001742065.2:n.984_986del
XR_001742066.2:n.984_986del
NM_000046.5:c.913_915del MANE Select	NP_000037.2:p.Thr305del
NM_198709.3:c.913_915del	NP_942002.1:p.Thr305del