Canonical Allele Identifier: CA2739266447

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2841797
• ClinVar RCV Id: RCV003602275

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982105_65982108dup , CM000669.2:g.65982105_65982108dup	GRCh38
NC_000007.13:g.65447092_65447095dup , CM000669.1:g.65447092_65447095dup	GRCh37
NC_000007.12:g.65084527_65084530dup	NCBI36
NG_016197.1:g.5207_5210dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.76_79dup MANE Select	ENSP00000302728.4:p.Met27ArgfsTer28
ENST00000304895.8:c.76_79dup	ENSP00000302728.4:p.Met27ArgfsTer28
ENST00000421103.5:c.76_79dup	ENSP00000391390.1:p.Met27ArgfsTer28
ENST00000430730.5:c.76_79dup	ENSP00000411859.1:p.Met27ArgfsTer28
ENST00000446111.1:c.76_79dup	ENSP00000416793.1:p.Met27ArgfsTer28
ENST00000447929.5:c.76_79dup	ENSP00000411262.1:p.Met27ArgfsTer28
NM_000181.3:c.76_79dup	NP_000172.2:p.Met27ArgfsTer28
NM_001284290.1:c.76_79dup	NP_001271219.1:p.Met27ArgfsTer28
NM_001293104.1:c.-310_-307dup	NP_001280033.1:n.-310_-307dup
NM_001293105.1:c.-254_-251dup	NP_001280034.1:n.-254_-251dup
NR_120531.1:n.207_210dup
XM_005250297.3:c.76_79dup	XP_005250354.1:p.Met27ArgfsTer28
XM_011516113.1:c.-254_-251dup	XP_011514415.1:n.-254_-251dup
XR_927461.1:n.202_205dup
XM_005250297.4:c.76_79dup	XP_005250354.1:p.Met27ArgfsTer28
XM_011516114.2:c.-610_-607dup	XP_011514416.1:n.-610_-607dup
XM_017012091.1:c.-254_-251dup	XP_016867580.1:n.-254_-251dup
XM_017012092.1:c.-310_-307dup	XP_016867581.1:n.-310_-307dup
XM_017012093.2:c.-610_-607dup	XP_016867582.1:n.-610_-607dup
XR_001744658.2:n.121_124dup
XR_001744659.2:n.121_124dup
XR_001744660.2:n.121_124dup
XR_001744661.2:n.121_124dup
XR_927461.3:n.121_124dup
NM_000181.4:c.76_79dup MANE Select	NP_000172.2:p.Met27ArgfsTer28
NM_001284290.2:c.76_79dup	NP_001271219.1:p.Met27ArgfsTer28
NM_001293104.2:c.-310_-307dup	NP_001280033.1:n.-310_-307dup
NM_001293105.2:c.-254_-251dup	NP_001280034.1:n.-254_-251dup
NR_120531.2:n.106_109dup