Canonical Allele Identifier: CA2714849286
Gene: GUSB HGNC NCBI

Linked Data

dbSNP Id: rs2116064353

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65982142_65982143insAAT , CM000669.2:g.65982142_65982143insAAT GRCh38
NC_000007.13:g.65447129_65447130insAAT , CM000669.1:g.65447129_65447130insAAT GRCh37
NC_000007.12:g.65084564_65084565insAAT NCBI36
NG_016197.1:g.5172_5173insATT

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.41_42insATT MANE Select ENSP00000302728.4:p.Pro14_Leu15insLeu
ENST00000304895.8:c.41_42insATT ENSP00000302728.4:p.Pro14_Leu15insLeu
ENST00000421103.5:c.41_42insATT ENSP00000391390.1:p.Pro14_Leu15insLeu
ENST00000430730.5:c.41_42insATT ENSP00000411859.1:p.Pro14_Leu15insLeu
ENST00000446111.1:c.41_42insATT ENSP00000416793.1:p.Pro14_Leu15insLeu
ENST00000447929.5:c.41_42insATT ENSP00000411262.1:p.Pro14_Leu15insLeu
NM_000181.3:c.41_42insATT NP_000172.2:p.Pro14_Leu15insLeu
NM_001284290.1:c.41_42insATT NP_001271219.1:p.Pro14_Leu15insLeu
NM_001293104.1:c.-345_-344insATT NP_001280033.1:n.-345_-344insATT
NM_001293105.1:c.-289_-288insATT NP_001280034.1:n.-289_-288insATT
NR_120531.1:n.172_173insATT
XM_005250297.3:c.41_42insATT XP_005250354.1:p.Pro14_Leu15insLeu
XM_011516113.1:c.-289_-288insATT XP_011514415.1:n.-289_-288insATT
XR_927461.1:n.167_168insATT
XM_005250297.4:c.41_42insATT XP_005250354.1:p.Pro14_Leu15insLeu
XM_011516114.2:c.-645_-644insATT XP_011514416.1:n.-645_-644insATT
XM_017012091.1:c.-289_-288insATT XP_016867580.1:n.-289_-288insATT
XM_017012092.1:c.-345_-344insATT XP_016867581.1:n.-345_-344insATT
XM_017012093.2:c.-645_-644insATT XP_016867582.1:n.-645_-644insATT
XR_001744658.2:n.86_87insATT
XR_001744659.2:n.86_87insATT
XR_001744660.2:n.86_87insATT
XR_001744661.2:n.86_87insATT
XR_927461.3:n.86_87insATT
NM_000181.4:c.41_42insATT MANE Select NP_000172.2:p.Pro14_Leu15insLeu
NM_001284290.2:c.41_42insATT NP_001271219.1:p.Pro14_Leu15insLeu
NM_001293104.2:c.-345_-344insATT NP_001280033.1:n.-345_-344insATT
NM_001293105.2:c.-289_-288insATT NP_001280034.1:n.-289_-288insATT
NR_120531.2:n.71_72insATT