Canonical Allele Identifier: CA339846
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65967731_65967768del , CM000669.2:g.65967731_65967768del GRCh38
NC_000007.13:g.65432718_65432755del , CM000669.1:g.65432718_65432755del GRCh37
NC_000007.12:g.65070153_65070190del NCBI36
NG_016197.1:g.19548_19585del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1617_1653+1del
ENST00000304895.8:c.1617_1653+1del
ENST00000421103.5:c.1179_1215+1del
ENST00000430730.5:c.*884_*920+1del
ENST00000447929.5:c.*997_*1033+1del
ENST00000461622.1:n.142_178+1del
ENST00000462371.1:n.655_691+1del
ENST00000466883.5:n.2007_2043+1del
NM_000181.3:c.1617_1653+1del
NM_001284290.1:c.1179_1215+1del
NM_001293104.1:c.1047_1083+1del
NM_001293105.1:c.960_996+1del
NR_120531.1:n.1663_1699+1del
XM_005250297.3:c.1464_1500+1del
XM_011516113.1:c.1116_1152+1del
XM_011516114.1:c.945_981+1del
XR_927461.1:n.1703_1739+1del
XM_005250297.4:c.1464_1500+1del
XM_011516114.2:c.945_981+1del
XM_017012091.1:c.963_999+1del
XM_017012092.1:c.894_930+1del
XM_017012093.2:c.792_828+1del
XR_001744658.2:n.1424_1460+1del
XR_001744659.2:n.1537_1573+1del
XR_001744660.2:n.1469_1505+1del
XR_001744661.2:n.1384_1420+1del
XR_927461.3:n.1622_1658+1del
NM_000181.4:c.1617_1653+1del
NM_001284290.2:c.1179_1215+1del
NM_001293104.2:c.1047_1083+1del
NM_001293105.2:c.960_996+1del
NR_120531.2:n.1562_1598+1del