Canonical Allele Identifier: CA2739266440

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2867424
• ClinVar RCV Id: RCV003600078

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960982_65960985del , CM000669.2:g.65960982_65960985del	GRCh38
NC_000007.13:g.65425969_65425972del , CM000669.1:g.65425969_65425972del	GRCh37
NC_000007.12:g.65063404_65063407del	NCBI36
NG_016197.1:g.26334_26337del
NG_051954.1:g.92884_92887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1872_1875del MANE Select	ENSP00000302728.4:p.Glu624AspfsTer15
ENST00000304895.8:c.1872_1875del	ENSP00000302728.4:p.Glu624AspfsTer15
ENST00000421103.5:c.1434_1437del	ENSP00000391390.1:p.Glu478AspfsTer15
ENST00000430730.5:c.*1139_*1142del	ENSP00000411859.1:n.*1139_*1142del
ENST00000447929.5:c.*1252_*1255del	ENSP00000411262.1:n.*1252_*1255del
ENST00000466883.5:n.2262_2265del
NM_000181.3:c.1872_1875del	NP_000172.2:p.Glu624AspfsTer15
NM_001284290.1:c.1434_1437del	NP_001271219.1:p.Glu478AspfsTer15
NM_001293104.1:c.1302_1305del	NP_001280033.1:p.Glu434AspfsTer15
NM_001293105.1:c.1215_1218del	NP_001280034.1:p.Glu405AspfsTer15
NR_120531.1:n.1918_1921del
XM_005250297.3:c.1719_1722del	XP_005250354.1:p.Glu573AspfsTer15
XM_011516113.1:c.1371_1374del	XP_011514415.1:p.Glu457AspfsTer15
XM_011516114.1:c.1200_1203del	XP_011514416.1:p.Glu400AspfsTer15
XM_005250297.4:c.1719_1722del	XP_005250354.1:p.Glu573AspfsTer15
XM_011516114.2:c.1200_1203del	XP_011514416.1:p.Glu400AspfsTer15
XM_017012091.1:c.1218_1221del	XP_016867580.1:p.Glu406AspfsTer15
XM_017012092.1:c.1149_1152del	XP_016867581.1:p.Glu383AspfsTer15
XM_017012093.2:c.1047_1050del	XP_016867582.1:p.Glu349AspfsTer15
XR_001744658.2:n.1679_1682del
XR_001744659.2:n.1792_1795del
XR_001744660.2:n.1724_1727del
XR_001744661.2:n.1639_1642del
XR_927461.3:n.1877_1880del
NM_000181.4:c.1872_1875del MANE Select	NP_000172.2:p.Glu624AspfsTer15
NM_001284290.2:c.1434_1437del	NP_001271219.1:p.Glu478AspfsTer15
NM_001293104.2:c.1302_1305del	NP_001280033.1:p.Glu434AspfsTer15
NM_001293105.2:c.1215_1218del	NP_001280034.1:p.Glu405AspfsTer15
NR_120531.2:n.1817_1820del