Canonical Allele Identifier: CA2683077857

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961080-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961080_65961081insG , CM000669.2:g.65961080_65961081insG	GRCh38
NC_000007.13:g.65426067_65426068insG , CM000669.1:g.65426067_65426068insG	GRCh37
NC_000007.12:g.65063502_65063503insG	NCBI36
NG_016197.1:g.26234_26235insC
NG_051954.1:g.92982_92983insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1790-18_1790-17insC MANE Select	ENSP00000302728.4:n.1790-18_1790-17insC
ENST00000304895.8:c.1790-18_1790-17insC	ENSP00000302728.4:n.1790-18_1790-17insC
ENST00000421103.5:c.1352-18_1352-17insC	ENSP00000391390.1:n.1352-18_1352-17insC
ENST00000430730.5:c.*1057-18_*1057-17insC	ENSP00000411859.1:n.*1057-18_*1057-17insC
ENST00000447929.5:c.*1170-18_*1170-17insC	ENSP00000411262.1:n.*1170-18_*1170-17insC
ENST00000466883.5:n.2180-18_2180-17insC
NM_000181.3:c.1790-18_1790-17insC	NP_000172.2:n.1790-18_1790-17insC
NM_001284290.1:c.1352-18_1352-17insC	NP_001271219.1:n.1352-18_1352-17insC
NM_001293104.1:c.1220-18_1220-17insC	NP_001280033.1:n.1220-18_1220-17insC
NM_001293105.1:c.1133-18_1133-17insC	NP_001280034.1:n.1133-18_1133-17insC
NR_120531.1:n.1836-18_1836-17insC
XM_005250297.3:c.1637-18_1637-17insC	XP_005250354.1:n.1637-18_1637-17insC
XM_011516113.1:c.1289-18_1289-17insC	XP_011514415.1:n.1289-18_1289-17insC
XM_011516114.1:c.1118-18_1118-17insC	XP_011514416.1:n.1118-18_1118-17insC
XM_005250297.4:c.1637-18_1637-17insC	XP_005250354.1:n.1637-18_1637-17insC
XM_011516114.2:c.1118-18_1118-17insC	XP_011514416.1:n.1118-18_1118-17insC
XM_017012091.1:c.1136-18_1136-17insC	XP_016867580.1:n.1136-18_1136-17insC
XM_017012092.1:c.1067-18_1067-17insC	XP_016867581.1:n.1067-18_1067-17insC
XM_017012093.2:c.965-18_965-17insC	XP_016867582.1:n.965-18_965-17insC
XR_001744658.2:n.1597-18_1597-17insC
XR_001744659.2:n.1710-18_1710-17insC
XR_001744660.2:n.1642-18_1642-17insC
XR_001744661.2:n.1557-18_1557-17insC
XR_927461.3:n.1795-18_1795-17insC
NM_000181.4:c.1790-18_1790-17insC MANE Select	NP_000172.2:n.1790-18_1790-17insC
NM_001284290.2:c.1352-18_1352-17insC	NP_001271219.1:n.1352-18_1352-17insC
NM_001293104.2:c.1220-18_1220-17insC	NP_001280033.1:n.1220-18_1220-17insC
NM_001293105.2:c.1133-18_1133-17insC	NP_001280034.1:n.1133-18_1133-17insC
NR_120531.2:n.1735-18_1735-17insC