Canonical Allele Identifier: CA1713854743

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961018_65961019delinsTG , CM000669.2:g.65961018_65961019delinsTG	GRCh38
NC_000007.13:g.65426005_65426006delinsTG , CM000669.1:g.65426005_65426006delinsTG	GRCh37
NC_000007.12:g.65063440_65063441delinsTG	NCBI36
NG_016197.1:g.26296_26297delinsCA
NG_051954.1:g.92920_92921delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1834_1835delinsCA MANE Select	ENSP00000302728.4:p.Gln612=
ENST00000304895.8:c.1834_1835delinsCA	ENSP00000302728.4:p.Gln612=
ENST00000421103.5:c.1396_1397delinsCA	ENSP00000391390.1:p.Gln466=
ENST00000430730.5:c.*1101_*1102delinsCA	ENSP00000411859.1:n.*1101_*1102delinsCA
ENST00000447929.5:c.*1214_*1215delinsCA	ENSP00000411262.1:n.*1214_*1215delinsCA
ENST00000466883.5:n.2224_2225delinsCA
NM_000181.3:c.1834_1835delinsCA	NP_000172.2:p.Gln612=
NM_001284290.1:c.1396_1397delinsCA	NP_001271219.1:p.Gln466=
NM_001293104.1:c.1264_1265delinsCA	NP_001280033.1:p.Gln422=
NM_001293105.1:c.1177_1178delinsCA	NP_001280034.1:p.Gln393=
NR_120531.1:n.1880_1881delinsCA
XM_005250297.3:c.1681_1682delinsCA	XP_005250354.1:p.Gln561=
XM_011516113.1:c.1333_1334delinsCA	XP_011514415.1:p.Gln445=
XM_011516114.1:c.1162_1163delinsCA	XP_011514416.1:p.Gln388=
XM_005250297.4:c.1681_1682delinsCA	XP_005250354.1:p.Gln561=
XM_011516114.2:c.1162_1163delinsCA	XP_011514416.1:p.Gln388=
XM_017012091.1:c.1180_1181delinsCA	XP_016867580.1:p.Gln394=
XM_017012092.1:c.1111_1112delinsCA	XP_016867581.1:p.Gln371=
XM_017012093.2:c.1009_1010delinsCA	XP_016867582.1:p.Gln337=
XR_001744658.2:n.1641_1642delinsCA
XR_001744659.2:n.1754_1755delinsCA
XR_001744660.2:n.1686_1687delinsCA
XR_001744661.2:n.1601_1602delinsCA
XR_927461.3:n.1839_1840delinsCA
NM_000181.4:c.1834_1835delinsCA MANE Select	NP_000172.2:p.Gln612=
NM_001284290.2:c.1396_1397delinsCA	NP_001271219.1:p.Gln466=
NM_001293104.2:c.1264_1265delinsCA	NP_001280033.1:p.Gln422=
NM_001293105.2:c.1177_1178delinsCA	NP_001280034.1:p.Gln393=
NR_120531.2:n.1779_1780delinsCA