Canonical Allele Identifier: CA1713854905
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65961063_65961065delinsGCT , CM000669.2:g.65961063_65961065delinsGCT GRCh38
NC_000007.13:g.65426050_65426052delinsGCT , CM000669.1:g.65426050_65426052delinsGCT GRCh37
NC_000007.12:g.65063485_65063487delinsGCT NCBI36
NG_016197.1:g.26250_26252delinsAGC
NG_051954.1:g.92965_92967delinsGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1790-2_1790delinsAGC
ENST00000304895.8:c.1790-2_1790delinsAGC
ENST00000421103.5:c.1352-2_1352delinsAGC
ENST00000430730.5:c.*1057-2_*1057delinsAGC
ENST00000447929.5:c.*1170-2_*1170delinsAGC
ENST00000466883.5:n.2180-2_2180delinsAGC
NM_000181.3:c.1790-2_1790delinsAGC
NM_001284290.1:c.1352-2_1352delinsAGC
NM_001293104.1:c.1220-2_1220delinsAGC
NM_001293105.1:c.1133-2_1133delinsAGC
NR_120531.1:n.1836-2_1836delinsAGC
XM_005250297.3:c.1637-2_1637delinsAGC
XM_011516113.1:c.1289-2_1289delinsAGC
XM_011516114.1:c.1118-2_1118delinsAGC
XM_005250297.4:c.1637-2_1637delinsAGC
XM_011516114.2:c.1118-2_1118delinsAGC
XM_017012091.1:c.1136-2_1136delinsAGC
XM_017012092.1:c.1067-2_1067delinsAGC
XM_017012093.2:c.965-2_965delinsAGC
XR_001744658.2:n.1597-2_1597delinsAGC
XR_001744659.2:n.1710-2_1710delinsAGC
XR_001744660.2:n.1642-2_1642delinsAGC
XR_001744661.2:n.1557-2_1557delinsAGC
XR_927461.3:n.1795-2_1795delinsAGC
NM_000181.4:c.1790-2_1790delinsAGC
NM_001284290.2:c.1352-2_1352delinsAGC
NM_001293104.2:c.1220-2_1220delinsAGC
NM_001293105.2:c.1133-2_1133delinsAGC
NR_120531.2:n.1735-2_1735delinsAGC