Canonical Allele Identifier: CA2840370329

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982014dup , CM000669.2:g.65982014dup	GRCh38
NC_000007.13:g.65447001dup , CM000669.1:g.65447001dup	GRCh37
NC_000007.12:g.65084436dup	NCBI36
NG_016197.1:g.5304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.173dup MANE Select	ENSP00000302728.4:p.Phe59LeufsTer27
ENST00000304895.8:c.173dup	ENSP00000302728.4:p.Phe59LeufsTer27
ENST00000421103.5:c.173dup	ENSP00000391390.1:p.Phe59LeufsTer27
ENST00000430730.5:c.173dup	ENSP00000411859.1:p.Phe59LeufsTer27
ENST00000446111.1:c.173dup	ENSP00000416793.1:p.Phe59LeufsTer27
ENST00000447929.5:c.173dup	ENSP00000411262.1:p.Phe59LeufsTer27
ENST00000475316.5:n.78dup
NM_000181.3:c.173dup	NP_000172.2:p.Phe59LeufsTer27
NM_001284290.1:c.173dup	NP_001271219.1:p.Phe59LeufsTer27
NM_001293104.1:c.-213dup	NP_001280033.1:n.-213dup
NM_001293105.1:c.-157dup	NP_001280034.1:n.-157dup
NR_120531.1:n.304dup
XM_005250297.3:c.173dup	XP_005250354.1:p.Phe59LeufsTer27
XM_011516113.1:c.-157dup	XP_011514415.1:n.-157dup
XR_927461.1:n.299dup
XM_005250297.4:c.173dup	XP_005250354.1:p.Phe59LeufsTer27
XM_011516114.2:c.-513dup	XP_011514416.1:n.-513dup
XM_017012091.1:c.-157dup	XP_016867580.1:n.-157dup
XM_017012092.1:c.-213dup	XP_016867581.1:n.-213dup
XM_017012093.2:c.-513dup	XP_016867582.1:n.-513dup
XR_001744658.2:n.218dup
XR_001744659.2:n.218dup
XR_001744660.2:n.218dup
XR_001744661.2:n.218dup
XR_927461.3:n.218dup
NM_000181.4:c.173dup MANE Select	NP_000172.2:p.Phe59LeufsTer27
NM_001284290.2:c.173dup	NP_001271219.1:p.Phe59LeufsTer27
NM_001293104.2:c.-213dup	NP_001280033.1:n.-213dup
NM_001293105.2:c.-157dup	NP_001280034.1:n.-157dup
NR_120531.2:n.203dup