Canonical Allele Identifier: CA1102376495

Gene: GUSB

Linked Data

• dbSNP Id: rs1790920705
• gnomAD v3: 7-65967594-ACGTGGACGGGGC-A
• gnomAD v4: 7-65967594-ACGTGGACGGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967600_65967611del , CM000669.2:g.65967600_65967611del	GRCh38
NC_000007.13:g.65432587_65432598del , CM000669.1:g.65432587_65432598del	GRCh37
NC_000007.12:g.65070022_65070033del	NCBI36
NG_016197.1:g.19709_19720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1653+125_1653+136del MANE Select	ENSP00000302728.4:n.1653+125_1653+136del
ENST00000304895.8:c.1653+125_1653+136del	ENSP00000302728.4:n.1653+125_1653+136del
ENST00000421103.5:c.1215+125_1215+136del	ENSP00000391390.1:n.1215+125_1215+136del
ENST00000430730.5:c.*920+125_*920+136del	ENSP00000411859.1:n.*920+125_*920+136del
ENST00000447929.5:c.*1033+125_*1033+136del	ENSP00000411262.1:n.*1033+125_*1033+136del
ENST00000461622.1:n.178+125_178+136del
ENST00000462371.1:n.691+125_691+136del
ENST00000466883.5:n.2043+125_2043+136del
NM_000181.3:c.1653+125_1653+136del	NP_000172.2:n.1653+125_1653+136del
NM_001284290.1:c.1215+125_1215+136del	NP_001271219.1:n.1215+125_1215+136del
NM_001293104.1:c.1083+125_1083+136del	NP_001280033.1:n.1083+125_1083+136del
NM_001293105.1:c.996+125_996+136del	NP_001280034.1:n.996+125_996+136del
NR_120531.1:n.1699+125_1699+136del
XM_005250297.3:c.1500+125_1500+136del	XP_005250354.1:n.1500+125_1500+136del
XM_011516113.1:c.1152+125_1152+136del	XP_011514415.1:n.1152+125_1152+136del
XM_011516114.1:c.981+125_981+136del	XP_011514416.1:n.981+125_981+136del
XR_927461.1:n.1739+125_1739+136del
XM_005250297.4:c.1500+125_1500+136del	XP_005250354.1:n.1500+125_1500+136del
XM_011516114.2:c.981+125_981+136del	XP_011514416.1:n.981+125_981+136del
XM_017012091.1:c.999+125_999+136del	XP_016867580.1:n.999+125_999+136del
XM_017012092.1:c.930+125_930+136del	XP_016867581.1:n.930+125_930+136del
XM_017012093.2:c.828+125_828+136del	XP_016867582.1:n.828+125_828+136del
XR_001744658.2:n.1460+125_1460+136del
XR_001744659.2:n.1573+125_1573+136del
XR_001744660.2:n.1505+125_1505+136del
XR_001744661.2:n.1420+125_1420+136del
XR_927461.3:n.1658+125_1658+136del
NM_000181.4:c.1653+125_1653+136del MANE Select	NP_000172.2:n.1653+125_1653+136del
NM_001284290.2:c.1215+125_1215+136del	NP_001271219.1:n.1215+125_1215+136del
NM_001293104.2:c.1083+125_1083+136del	NP_001280033.1:n.1083+125_1083+136del
NM_001293105.2:c.996+125_996+136del	NP_001280034.1:n.996+125_996+136del
NR_120531.2:n.1598+125_1598+136del