Canonical Allele Identifier: CA2683077851

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961067-C-CAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961078_65961081dup , CM000669.2:g.65961078_65961081dup	GRCh38
NC_000007.13:g.65426065_65426068dup , CM000669.1:g.65426065_65426068dup	GRCh37
NC_000007.12:g.65063500_65063503dup	NCBI36
NG_016197.1:g.26244_26247dup
NG_051954.1:g.92980_92983dup

Transcript Alleles

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