Canonical Allele Identifier: CA918028895
Gene: GUSB HGNC NCBI

Linked Data

dbSNP Id: rs1583955663

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65982175_65982176insTC , CM000669.2:g.65982175_65982176insTC GRCh38
NC_000007.13:g.65447162_65447163insTC , CM000669.1:g.65447162_65447163insTC GRCh37
NC_000007.12:g.65084597_65084598insTC NCBI36
NG_016197.1:g.5140_5141insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.9_10insAG MANE Select ENSP00000302728.4:p.Gly4ArgfsTer?
ENST00000304895.8:c.9_10insAG ENSP00000302728.4:p.Gly4ArgfsTer?
ENST00000421103.5:c.9_10insAG ENSP00000391390.1:p.Gly4ArgfsTer?
ENST00000430730.5:c.9_10insAG ENSP00000411859.1:p.Gly4ArgfsTer?
ENST00000446111.1:c.9_10insAG ENSP00000416793.1:p.Gly4ArgfsTer?
ENST00000447929.5:c.9_10insAG ENSP00000411262.1:p.Gly4ArgfsTer?
NM_000181.3:c.9_10insAG NP_000172.2:p.Gly4ArgfsTer?
NM_001284290.1:c.9_10insAG NP_001271219.1:p.Gly4ArgfsTer?
NM_001293104.1:c.-377_-376insAG NP_001280033.1:n.-377_-376insAG
NM_001293105.1:c.-321_-320insAG NP_001280034.1:n.-321_-320insAG
NR_120531.1:n.140_141insAG
XM_005250297.3:c.9_10insAG XP_005250354.1:p.Gly4ArgfsTer?
XM_011516113.1:c.-321_-320insAG XP_011514415.1:n.-321_-320insAG
XR_927461.1:n.135_136insAG
XM_005250297.4:c.9_10insAG XP_005250354.1:p.Gly4ArgfsTer?
XM_011516114.2:c.-677_-676insAG XP_011514416.1:n.-677_-676insAG
XM_017012091.1:c.-321_-320insAG XP_016867580.1:n.-321_-320insAG
XM_017012092.1:c.-377_-376insAG XP_016867581.1:n.-377_-376insAG
XM_017012093.2:c.-677_-676insAG XP_016867582.1:n.-677_-676insAG
XR_001744658.2:n.54_55insAG
XR_001744659.2:n.54_55insAG
XR_001744660.2:n.54_55insAG
XR_001744661.2:n.54_55insAG
XR_927461.3:n.54_55insAG
NM_000181.4:c.9_10insAG MANE Select NP_000172.2:p.Gly4ArgfsTer?
NM_001284290.2:c.9_10insAG NP_001271219.1:p.Gly4ArgfsTer?
NM_001293104.2:c.-377_-376insAG NP_001280033.1:n.-377_-376insAG
NM_001293105.2:c.-321_-320insAG NP_001280034.1:n.-321_-320insAG
NR_120531.2:n.39_40insAG