Canonical Allele Identifier: CA575259133

Gene: GUSB

Linked Data

• dbSNP Id: rs1170546425
• gnomAD v2: 7-65425989-ACT-A
• gnomAD v4: 7-65961002-ACT-A
• MyVariant Identifiers: chr7:g.65425990_65425991del (hg19) ; chr7:g.65961003_65961004del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961003_65961004del , CM000669.2:g.65961003_65961004del	GRCh38
NC_000007.13:g.65425990_65425991del , CM000669.1:g.65425990_65425991del	GRCh37
NC_000007.12:g.65063425_65063426del	NCBI36
NG_016197.1:g.26311_26312del
NG_051954.1:g.92905_92906del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1849_1850del MANE Select	ENSP00000302728.4:p.Ser617CysfsTer15
ENST00000304895.8:c.1849_1850del	ENSP00000302728.4:p.Ser617CysfsTer15
ENST00000421103.5:c.1411_1412del	ENSP00000391390.1:p.Ser471CysfsTer15
ENST00000430730.5:c.*1116_*1117del	ENSP00000411859.1:n.*1116_*1117del
ENST00000447929.5:c.*1229_*1230del	ENSP00000411262.1:n.*1229_*1230del
ENST00000466883.5:n.2239_2240del
NM_000181.3:c.1849_1850del	NP_000172.2:p.Ser617CysfsTer15
NM_001284290.1:c.1411_1412del	NP_001271219.1:p.Ser471CysfsTer15
NM_001293104.1:c.1279_1280del	NP_001280033.1:p.Ser427CysfsTer15
NM_001293105.1:c.1192_1193del	NP_001280034.1:p.Ser398CysfsTer15
NR_120531.1:n.1895_1896del
XM_005250297.3:c.1696_1697del	XP_005250354.1:p.Ser566CysfsTer15
XM_011516113.1:c.1348_1349del	XP_011514415.1:p.Ser450CysfsTer15
XM_011516114.1:c.1177_1178del	XP_011514416.1:p.Ser393CysfsTer15
XM_005250297.4:c.1696_1697del	XP_005250354.1:p.Ser566CysfsTer15
XM_011516114.2:c.1177_1178del	XP_011514416.1:p.Ser393CysfsTer15
XM_017012091.1:c.1195_1196del	XP_016867580.1:p.Ser399CysfsTer15
XM_017012092.1:c.1126_1127del	XP_016867581.1:p.Ser376CysfsTer15
XM_017012093.2:c.1024_1025del	XP_016867582.1:p.Ser342CysfsTer15
XR_001744658.2:n.1656_1657del
XR_001744659.2:n.1769_1770del
XR_001744660.2:n.1701_1702del
XR_001744661.2:n.1616_1617del
XR_927461.3:n.1854_1855del
NM_000181.4:c.1849_1850del MANE Select	NP_000172.2:p.Ser617CysfsTer15
NM_001284290.2:c.1411_1412del	NP_001271219.1:p.Ser471CysfsTer15
NM_001293104.2:c.1279_1280del	NP_001280033.1:p.Ser427CysfsTer15
NM_001293105.2:c.1192_1193del	NP_001280034.1:p.Ser398CysfsTer15
NR_120531.2:n.1794_1795del