Canonical Allele Identifier: CA645565500
Gene: GUSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65967779_65967780delinsAA , CM000669.2:g.65967779_65967780delinsAA GRCh38
NC_000007.13:g.65432766_65432767delinsAA , CM000669.1:g.65432766_65432767delinsAA GRCh37
NC_000007.12:g.65070201_65070202delinsAA NCBI36
NG_016197.1:g.19535_19536delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1604_1605delinsTT MANE Select ENSP00000302728.4:p.Pro535Leu
ENST00000304895.8:c.1604_1605delinsTT ENSP00000302728.4:p.Pro535Leu
ENST00000421103.5:c.1166_1167delinsTT ENSP00000391390.1:p.Pro389Leu
ENST00000430730.5:c.*871_*872delinsTT ENSP00000411859.1:n.*871_*872delinsTT
ENST00000447929.5:c.*984_*985delinsTT ENSP00000411262.1:n.*984_*985delinsTT
ENST00000461622.1:n.129_130delinsTT
ENST00000462371.1:n.642_643delinsTT
ENST00000466883.5:n.1994_1995delinsTT
NM_000181.3:c.1604_1605delinsTT NP_000172.2:p.Pro535Leu
NM_001284290.1:c.1166_1167delinsTT NP_001271219.1:p.Pro389Leu
NM_001293104.1:c.1034_1035delinsTT NP_001280033.1:p.Pro345Leu
NM_001293105.1:c.947_948delinsTT NP_001280034.1:p.Pro316Leu
NR_120531.1:n.1650_1651delinsTT
XM_005250297.3:c.1451_1452delinsTT XP_005250354.1:p.Pro484Leu
XM_011516113.1:c.1103_1104delinsTT XP_011514415.1:p.Pro368Leu
XM_011516114.1:c.932_933delinsTT XP_011514416.1:p.Pro311Leu
XR_927461.1:n.1690_1691delinsTT
XM_005250297.4:c.1451_1452delinsTT XP_005250354.1:p.Pro484Leu
XM_011516114.2:c.932_933delinsTT XP_011514416.1:p.Pro311Leu
XM_017012091.1:c.950_951delinsTT XP_016867580.1:p.Pro317Leu
XM_017012092.1:c.881_882delinsTT XP_016867581.1:p.Pro294Leu
XM_017012093.2:c.779_780delinsTT XP_016867582.1:p.Pro260Leu
XR_001744658.2:n.1411_1412delinsTT
XR_001744659.2:n.1524_1525delinsTT
XR_001744660.2:n.1456_1457delinsTT
XR_001744661.2:n.1371_1372delinsTT
XR_927461.3:n.1609_1610delinsTT
NM_000181.4:c.1604_1605delinsTT MANE Select NP_000172.2:p.Pro535Leu
NM_001284290.2:c.1166_1167delinsTT NP_001271219.1:p.Pro389Leu
NM_001293104.2:c.1034_1035delinsTT NP_001280033.1:p.Pro345Leu
NM_001293105.2:c.947_948delinsTT NP_001280034.1:p.Pro316Leu
NR_120531.2:n.1549_1550delinsTT