Canonical Allele Identifier: CA1102383831

Gene: GUSB

Linked Data

• dbSNP Id: rs1790432327
• gnomAD v3: 7-65960812-AAC-A
• gnomAD v4: 7-65960812-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960814_65960815del , CM000669.2:g.65960814_65960815del	GRCh38
NC_000007.13:g.65425801_65425802del , CM000669.1:g.65425801_65425802del	GRCh37
NC_000007.12:g.65063236_65063237del	NCBI36
NG_016197.1:g.26501_26502del
NG_051954.1:g.92716_92717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*83_*84del MANE Select	ENSP00000302728.4:n.*83_*84del
ENST00000304895.8:c.*83_*84del	ENSP00000302728.4:n.*83_*84del
ENST00000421103.5:c.*83_*84del	ENSP00000391390.1:n.*83_*84del
ENST00000430730.5:c.*1306_*1307del	ENSP00000411859.1:n.*1306_*1307del
ENST00000447929.5:c.*1419_*1420del	ENSP00000411262.1:n.*1419_*1420del
ENST00000466883.5:n.2429_2430del
NM_000181.3:c.*83_*84del	NP_000172.2:n.*83_*84del
NM_001284290.1:c.*83_*84del	NP_001271219.1:n.*83_*84del
NM_001293104.1:c.*83_*84del	NP_001280033.1:n.*83_*84del
NM_001293105.1:c.*83_*84del	NP_001280034.1:n.*83_*84del
NR_120531.1:n.2085_2086del
XM_005250297.3:c.*83_*84del	XP_005250354.1:n.*83_*84del
XM_011516113.1:c.*83_*84del	XP_011514415.1:n.*83_*84del
XM_011516114.1:c.*83_*84del	XP_011514416.1:n.*83_*84del
XM_005250297.4:c.*83_*84del	XP_005250354.1:n.*83_*84del
XM_011516114.2:c.*83_*84del	XP_011514416.1:n.*83_*84del
XM_017012091.1:c.*83_*84del	XP_016867580.1:n.*83_*84del
XM_017012092.1:c.*83_*84del	XP_016867581.1:n.*83_*84del
XM_017012093.2:c.*83_*84del	XP_016867582.1:n.*83_*84del
XR_001744658.2:n.1846_1847del
XR_001744659.2:n.1959_1960del
XR_001744660.2:n.1891_1892del
XR_001744661.2:n.1806_1807del
XR_927461.3:n.2044_2045del
NM_000181.4:c.*83_*84del MANE Select	NP_000172.2:n.*83_*84del
NM_001284290.2:c.*83_*84del	NP_001271219.1:n.*83_*84del
NM_001293104.2:c.*83_*84del	NP_001280033.1:n.*83_*84del
NM_001293105.2:c.*83_*84del	NP_001280034.1:n.*83_*84del
NR_120531.2:n.1984_1985del