Canonical Allele Identifier: CA2776236119
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65961054_65961064del , CM000669.2:g.65961054_65961064del GRCh38
NC_000007.13:g.65426041_65426051del , CM000669.1:g.65426041_65426051del GRCh37
NC_000007.12:g.65063476_65063486del NCBI36
NG_016197.1:g.26251_26261del
NG_051954.1:g.92956_92966del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1790-1_1799del
ENST00000304895.8:c.1790-1_1799del
ENST00000421103.5:c.1352-1_1361del
ENST00000430730.5:c.*1057-1_*1066del
ENST00000447929.5:c.*1170-1_*1179del
ENST00000466883.5:n.2180-1_2189del
NM_000181.3:c.1790-1_1799del
NM_001284290.1:c.1352-1_1361del
NM_001293104.1:c.1220-1_1229del
NM_001293105.1:c.1133-1_1142del
NR_120531.1:n.1836-1_1845del
XM_005250297.3:c.1637-1_1646del
XM_011516113.1:c.1289-1_1298del
XM_011516114.1:c.1118-1_1127del
XM_005250297.4:c.1637-1_1646del
XM_011516114.2:c.1118-1_1127del
XM_017012091.1:c.1136-1_1145del
XM_017012092.1:c.1067-1_1076del
XM_017012093.2:c.965-1_974del
XR_001744658.2:n.1597-1_1606del
XR_001744659.2:n.1710-1_1719del
XR_001744660.2:n.1642-1_1651del
XR_001744661.2:n.1557-1_1566del
XR_927461.3:n.1795-1_1804del
NM_000181.4:c.1790-1_1799del
NM_001284290.2:c.1352-1_1361del
NM_001293104.2:c.1220-1_1229del
NM_001293105.2:c.1133-1_1142del
NR_120531.2:n.1735-1_1744del