Canonical Allele Identifier: CA575259165

Gene: GUSB

Linked Data

• dbSNP Id: rs1562665647
• gnomAD v2: 7-65425861-C-CAGG
• gnomAD v4: 7-65960874-C-CAGG
• MyVariant Identifiers: chr7:g.65425861_65425862insAGG (hg19) ; chr7:g.65960874_65960875insAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960875_65960876insGGA , CM000669.2:g.65960875_65960876insGGA	GRCh38
NC_000007.13:g.65425862_65425863insGGA , CM000669.1:g.65425862_65425863insGGA	GRCh37
NC_000007.12:g.65063297_65063298insGGA	NCBI36
NG_016197.1:g.26440_26441insCCT
NG_051954.1:g.92777_92778insGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*22_*23insCCT MANE Select	ENSP00000302728.4:n.*22_*23insCCT
ENST00000304895.8:c.*22_*23insCCT	ENSP00000302728.4:n.*22_*23insCCT
ENST00000421103.5:c.*22_*23insCCT	ENSP00000391390.1:n.*22_*23insCCT
ENST00000430730.5:c.*1245_*1246insCCT	ENSP00000411859.1:n.*1245_*1246insCCT
ENST00000447929.5:c.*1358_*1359insCCT	ENSP00000411262.1:n.*1358_*1359insCCT
ENST00000466883.5:n.2368_2369insCCT
NM_000181.3:c.*22_*23insCCT	NP_000172.2:n.*22_*23insCCT
NM_001284290.1:c.*22_*23insCCT	NP_001271219.1:n.*22_*23insCCT
NM_001293104.1:c.*22_*23insCCT	NP_001280033.1:n.*22_*23insCCT
NM_001293105.1:c.*22_*23insCCT	NP_001280034.1:n.*22_*23insCCT
NR_120531.1:n.2024_2025insCCT
XM_005250297.3:c.*22_*23insCCT	XP_005250354.1:n.*22_*23insCCT
XM_011516113.1:c.*22_*23insCCT	XP_011514415.1:n.*22_*23insCCT
XM_011516114.1:c.*22_*23insCCT	XP_011514416.1:n.*22_*23insCCT
XM_005250297.4:c.*22_*23insCCT	XP_005250354.1:n.*22_*23insCCT
XM_011516114.2:c.*22_*23insCCT	XP_011514416.1:n.*22_*23insCCT
XM_017012091.1:c.*22_*23insCCT	XP_016867580.1:n.*22_*23insCCT
XM_017012092.1:c.*22_*23insCCT	XP_016867581.1:n.*22_*23insCCT
XM_017012093.2:c.*22_*23insCCT	XP_016867582.1:n.*22_*23insCCT
XR_001744658.2:n.1785_1786insCCT
XR_001744659.2:n.1898_1899insCCT
XR_001744660.2:n.1830_1831insCCT
XR_001744661.2:n.1745_1746insCCT
XR_927461.3:n.1983_1984insCCT
NM_000181.4:c.*22_*23insCCT MANE Select	NP_000172.2:n.*22_*23insCCT
NM_001284290.2:c.*22_*23insCCT	NP_001271219.1:n.*22_*23insCCT
NM_001293104.2:c.*22_*23insCCT	NP_001280033.1:n.*22_*23insCCT
NM_001293105.2:c.*22_*23insCCT	NP_001280034.1:n.*22_*23insCCT
NR_120531.2:n.1923_1924insCCT