Canonical Allele Identifier: CA1713854945

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961066_65961067delinsAC , CM000669.2:g.65961066_65961067delinsAC	GRCh38
NC_000007.13:g.65426053_65426054delinsAC , CM000669.1:g.65426053_65426054delinsAC	GRCh37
NC_000007.12:g.65063488_65063489delinsAC	NCBI36
NG_016197.1:g.26248_26249delinsGT
NG_051954.1:g.92968_92969delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1790-4_1790-3delinsGT MANE Select	ENSP00000302728.4:n.1790-4_1790-3delinsGT
ENST00000304895.8:c.1790-4_1790-3delinsGT	ENSP00000302728.4:n.1790-4_1790-3delinsGT
ENST00000421103.5:c.1352-4_1352-3delinsGT	ENSP00000391390.1:n.1352-4_1352-3delinsGT
ENST00000430730.5:c.*1057-4_*1057-3delinsGT	ENSP00000411859.1:n.*1057-4_*1057-3delinsGT
ENST00000447929.5:c.*1170-4_*1170-3delinsGT	ENSP00000411262.1:n.*1170-4_*1170-3delinsGT
ENST00000466883.5:n.2180-4_2180-3delinsGT
NM_000181.3:c.1790-4_1790-3delinsGT	NP_000172.2:n.1790-4_1790-3delinsGT
NM_001284290.1:c.1352-4_1352-3delinsGT	NP_001271219.1:n.1352-4_1352-3delinsGT
NM_001293104.1:c.1220-4_1220-3delinsGT	NP_001280033.1:n.1220-4_1220-3delinsGT
NM_001293105.1:c.1133-4_1133-3delinsGT	NP_001280034.1:n.1133-4_1133-3delinsGT
NR_120531.1:n.1836-4_1836-3delinsGT
XM_005250297.3:c.1637-4_1637-3delinsGT	XP_005250354.1:n.1637-4_1637-3delinsGT
XM_011516113.1:c.1289-4_1289-3delinsGT	XP_011514415.1:n.1289-4_1289-3delinsGT
XM_011516114.1:c.1118-4_1118-3delinsGT	XP_011514416.1:n.1118-4_1118-3delinsGT
XM_005250297.4:c.1637-4_1637-3delinsGT	XP_005250354.1:n.1637-4_1637-3delinsGT
XM_011516114.2:c.1118-4_1118-3delinsGT	XP_011514416.1:n.1118-4_1118-3delinsGT
XM_017012091.1:c.1136-4_1136-3delinsGT	XP_016867580.1:n.1136-4_1136-3delinsGT
XM_017012092.1:c.1067-4_1067-3delinsGT	XP_016867581.1:n.1067-4_1067-3delinsGT
XM_017012093.2:c.965-4_965-3delinsGT	XP_016867582.1:n.965-4_965-3delinsGT
XR_001744658.2:n.1597-4_1597-3delinsGT
XR_001744659.2:n.1710-4_1710-3delinsGT
XR_001744660.2:n.1642-4_1642-3delinsGT
XR_001744661.2:n.1557-4_1557-3delinsGT
XR_927461.3:n.1795-4_1795-3delinsGT
NM_000181.4:c.1790-4_1790-3delinsGT MANE Select	NP_000172.2:n.1790-4_1790-3delinsGT
NM_001284290.2:c.1352-4_1352-3delinsGT	NP_001271219.1:n.1352-4_1352-3delinsGT
NM_001293104.2:c.1220-4_1220-3delinsGT	NP_001280033.1:n.1220-4_1220-3delinsGT
NM_001293105.2:c.1133-4_1133-3delinsGT	NP_001280034.1:n.1133-4_1133-3delinsGT
NR_120531.2:n.1735-4_1735-3delinsGT