Canonical Allele Identifier: CA1713855060
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65961095_65961096delinsTC , CM000669.2:g.65961095_65961096delinsTC GRCh38
NC_000007.13:g.65426082_65426083delinsTC , CM000669.1:g.65426082_65426083delinsTC GRCh37
NC_000007.12:g.65063517_65063518delinsTC NCBI36
NG_016197.1:g.26219_26220delinsGA
NG_051954.1:g.92997_92998delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1790-33_1790-32delinsGA MANE Select ENSP00000302728.4:n.1790-33_1790-32delinsGA
ENST00000304895.8:c.1790-33_1790-32delinsGA ENSP00000302728.4:n.1790-33_1790-32delinsGA
ENST00000421103.5:c.1352-33_1352-32delinsGA ENSP00000391390.1:n.1352-33_1352-32delinsGA
ENST00000430730.5:c.*1057-33_*1057-32delinsGA ENSP00000411859.1:n.*1057-33_*1057-32delinsGA
ENST00000447929.5:c.*1170-33_*1170-32delinsGA ENSP00000411262.1:n.*1170-33_*1170-32delinsGA
ENST00000466883.5:n.2180-33_2180-32delinsGA
NM_000181.3:c.1790-33_1790-32delinsGA NP_000172.2:n.1790-33_1790-32delinsGA
NM_001284290.1:c.1352-33_1352-32delinsGA NP_001271219.1:n.1352-33_1352-32delinsGA
NM_001293104.1:c.1220-33_1220-32delinsGA NP_001280033.1:n.1220-33_1220-32delinsGA
NM_001293105.1:c.1133-33_1133-32delinsGA NP_001280034.1:n.1133-33_1133-32delinsGA
NR_120531.1:n.1836-33_1836-32delinsGA
XM_005250297.3:c.1637-33_1637-32delinsGA XP_005250354.1:n.1637-33_1637-32delinsGA
XM_011516113.1:c.1289-33_1289-32delinsGA XP_011514415.1:n.1289-33_1289-32delinsGA
XM_011516114.1:c.1118-33_1118-32delinsGA XP_011514416.1:n.1118-33_1118-32delinsGA
XM_005250297.4:c.1637-33_1637-32delinsGA XP_005250354.1:n.1637-33_1637-32delinsGA
XM_011516114.2:c.1118-33_1118-32delinsGA XP_011514416.1:n.1118-33_1118-32delinsGA
XM_017012091.1:c.1136-33_1136-32delinsGA XP_016867580.1:n.1136-33_1136-32delinsGA
XM_017012092.1:c.1067-33_1067-32delinsGA XP_016867581.1:n.1067-33_1067-32delinsGA
XM_017012093.2:c.965-33_965-32delinsGA XP_016867582.1:n.965-33_965-32delinsGA
XR_001744658.2:n.1597-33_1597-32delinsGA
XR_001744659.2:n.1710-33_1710-32delinsGA
XR_001744660.2:n.1642-33_1642-32delinsGA
XR_001744661.2:n.1557-33_1557-32delinsGA
XR_927461.3:n.1795-33_1795-32delinsGA
NM_000181.4:c.1790-33_1790-32delinsGA MANE Select NP_000172.2:n.1790-33_1790-32delinsGA
NM_001284290.2:c.1352-33_1352-32delinsGA NP_001271219.1:n.1352-33_1352-32delinsGA
NM_001293104.2:c.1220-33_1220-32delinsGA NP_001280033.1:n.1220-33_1220-32delinsGA
NM_001293105.2:c.1133-33_1133-32delinsGA NP_001280034.1:n.1133-33_1133-32delinsGA
NR_120531.2:n.1735-33_1735-32delinsGA