Canonical Allele Identifier: CA1713854372

Gene: GUSB

Linked Data

• dbSNP Id: rs1790439858

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960888_65960889del , CM000669.2:g.65960888_65960889del	GRCh38
NC_000007.13:g.65425875_65425876del , CM000669.1:g.65425875_65425876del	GRCh37
NC_000007.12:g.65063310_65063311del	NCBI36
NG_016197.1:g.26426_26427del
NG_051954.1:g.92790_92791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*8_*9del MANE Select	ENSP00000302728.4:n.*8_*9del
ENST00000304895.8:c.*8_*9del	ENSP00000302728.4:n.*8_*9del
ENST00000421103.5:c.*8_*9del	ENSP00000391390.1:n.*8_*9del
ENST00000430730.5:c.*1231_*1232del	ENSP00000411859.1:n.*1231_*1232del
ENST00000447929.5:c.*1344_*1345del	ENSP00000411262.1:n.*1344_*1345del
ENST00000466883.5:n.2354_2355del
NM_000181.3:c.*8_*9del	NP_000172.2:n.*8_*9del
NM_001284290.1:c.*8_*9del	NP_001271219.1:n.*8_*9del
NM_001293104.1:c.*8_*9del	NP_001280033.1:n.*8_*9del
NM_001293105.1:c.*8_*9del	NP_001280034.1:n.*8_*9del
NR_120531.1:n.2010_2011del
XM_005250297.3:c.*8_*9del	XP_005250354.1:n.*8_*9del
XM_011516113.1:c.*8_*9del	XP_011514415.1:n.*8_*9del
XM_011516114.1:c.*8_*9del	XP_011514416.1:n.*8_*9del
XM_005250297.4:c.*8_*9del	XP_005250354.1:n.*8_*9del
XM_011516114.2:c.*8_*9del	XP_011514416.1:n.*8_*9del
XM_017012091.1:c.*8_*9del	XP_016867580.1:n.*8_*9del
XM_017012092.1:c.*8_*9del	XP_016867581.1:n.*8_*9del
XM_017012093.2:c.*8_*9del	XP_016867582.1:n.*8_*9del
XR_001744658.2:n.1771_1772del
XR_001744659.2:n.1884_1885del
XR_001744660.2:n.1816_1817del
XR_001744661.2:n.1731_1732del
XR_927461.3:n.1969_1970del
NM_000181.4:c.*8_*9del MANE Select	NP_000172.2:n.*8_*9del
NM_001284290.2:c.*8_*9del	NP_001271219.1:n.*8_*9del
NM_001293104.2:c.*8_*9del	NP_001280033.1:n.*8_*9del
NM_001293105.2:c.*8_*9del	NP_001280034.1:n.*8_*9del
NR_120531.2:n.1909_1910del