Canonical Allele Identifier: CA2578899422

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967936-GCACTCAGTAGACAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967937_65967952del , CM000669.2:g.65967937_65967952del	GRCh38
NC_000007.13:g.65432924_65432939del , CM000669.1:g.65432924_65432939del	GRCh37
NC_000007.12:g.65070359_65070374del	NCBI36
NG_016197.1:g.19363_19378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1477-45_1477-30del MANE Select	ENSP00000302728.4:n.1477-45_1477-30del
ENST00000304895.8:c.1477-45_1477-30del	ENSP00000302728.4:n.1477-45_1477-30del
ENST00000421103.5:c.1039-45_1039-30del	ENSP00000391390.1:n.1039-45_1039-30del
ENST00000430730.5:c.*744-45_*744-30del	ENSP00000411859.1:n.*744-45_*744-30del
ENST00000447929.5:c.*857-45_*857-30del	ENSP00000411262.1:n.*857-45_*857-30del
ENST00000462371.1:n.515-45_515-30del
ENST00000466883.5:n.1867-45_1867-30del
NM_000181.3:c.1477-45_1477-30del	NP_000172.2:n.1477-45_1477-30del
NM_001284290.1:c.1039-45_1039-30del	NP_001271219.1:n.1039-45_1039-30del
NM_001293104.1:c.907-45_907-30del	NP_001280033.1:n.907-45_907-30del
NM_001293105.1:c.820-45_820-30del	NP_001280034.1:n.820-45_820-30del
NR_120531.1:n.1523-45_1523-30del
XM_005250297.3:c.1324-45_1324-30del	XP_005250354.1:n.1324-45_1324-30del
XM_011516113.1:c.976-45_976-30del	XP_011514415.1:n.976-45_976-30del
XM_011516114.1:c.805-45_805-30del	XP_011514416.1:n.805-45_805-30del
XR_927461.1:n.1563-45_1563-30del
XM_005250297.4:c.1324-45_1324-30del	XP_005250354.1:n.1324-45_1324-30del
XM_011516114.2:c.805-45_805-30del	XP_011514416.1:n.805-45_805-30del
XM_017012091.1:c.823-45_823-30del	XP_016867580.1:n.823-45_823-30del
XM_017012092.1:c.754-45_754-30del	XP_016867581.1:n.754-45_754-30del
XM_017012093.2:c.652-45_652-30del	XP_016867582.1:n.652-45_652-30del
XR_001744658.2:n.1284-45_1284-30del
XR_001744659.2:n.1397-45_1397-30del
XR_001744660.2:n.1329-45_1329-30del
XR_001744661.2:n.1244-45_1244-30del
XR_927461.3:n.1482-45_1482-30del
NM_000181.4:c.1477-45_1477-30del MANE Select	NP_000172.2:n.1477-45_1477-30del
NM_001284290.2:c.1039-45_1039-30del	NP_001271219.1:n.1039-45_1039-30del
NM_001293104.2:c.907-45_907-30del	NP_001280033.1:n.907-45_907-30del
NM_001293105.2:c.820-45_820-30del	NP_001280034.1:n.820-45_820-30del
NR_120531.2:n.1422-45_1422-30del