Canonical Allele Identifier: CA1713854545

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960947_65960948delinsGA , CM000669.2:g.65960947_65960948delinsGA	GRCh38
NC_000007.13:g.65425934_65425935delinsGA , CM000669.1:g.65425934_65425935delinsGA	GRCh37
NC_000007.12:g.65063369_65063370delinsGA	NCBI36
NG_016197.1:g.26367_26368delinsTC
NG_051954.1:g.92849_92850delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1905_1906delinsTC MANE Select	ENSP00000302728.4:p.Tyr635=
ENST00000304895.8:c.1905_1906delinsTC	ENSP00000302728.4:p.Tyr635=
ENST00000421103.5:c.1467_1468delinsTC	ENSP00000391390.1:p.Tyr489=
ENST00000430730.5:c.*1172_*1173delinsTC	ENSP00000411859.1:n.*1172_*1173delinsTC
ENST00000447929.5:c.*1285_*1286delinsTC	ENSP00000411262.1:n.*1285_*1286delinsTC
ENST00000466883.5:n.2295_2296delinsTC
NM_000181.3:c.1905_1906delinsTC	NP_000172.2:p.Tyr635=
NM_001284290.1:c.1467_1468delinsTC	NP_001271219.1:p.Tyr489=
NM_001293104.1:c.1335_1336delinsTC	NP_001280033.1:p.Tyr445=
NM_001293105.1:c.1248_1249delinsTC	NP_001280034.1:p.Tyr416=
NR_120531.1:n.1951_1952delinsTC
XM_005250297.3:c.1752_1753delinsTC	XP_005250354.1:p.Tyr584=
XM_011516113.1:c.1404_1405delinsTC	XP_011514415.1:p.Tyr468=
XM_011516114.1:c.1233_1234delinsTC	XP_011514416.1:p.Tyr411=
XM_005250297.4:c.1752_1753delinsTC	XP_005250354.1:p.Tyr584=
XM_011516114.2:c.1233_1234delinsTC	XP_011514416.1:p.Tyr411=
XM_017012091.1:c.1251_1252delinsTC	XP_016867580.1:p.Tyr417=
XM_017012092.1:c.1182_1183delinsTC	XP_016867581.1:p.Tyr394=
XM_017012093.2:c.1080_1081delinsTC	XP_016867582.1:p.Tyr360=
XR_001744658.2:n.1712_1713delinsTC
XR_001744659.2:n.1825_1826delinsTC
XR_001744660.2:n.1757_1758delinsTC
XR_001744661.2:n.1672_1673delinsTC
XR_927461.3:n.1910_1911delinsTC
NM_000181.4:c.1905_1906delinsTC MANE Select	NP_000172.2:p.Tyr635=
NM_001284290.2:c.1467_1468delinsTC	NP_001271219.1:p.Tyr489=
NM_001293104.2:c.1335_1336delinsTC	NP_001280033.1:p.Tyr445=
NM_001293105.2:c.1248_1249delinsTC	NP_001280034.1:p.Tyr416=
NR_120531.2:n.1850_1851delinsTC