Canonical Allele Identifier: CA2683078603
Gene: GUSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65967900_65967901dup , CM000669.2:g.65967900_65967901dup GRCh38
NC_000007.13:g.65432887_65432888dup , CM000669.1:g.65432887_65432888dup GRCh37
NC_000007.12:g.65070322_65070323dup NCBI36
NG_016197.1:g.19415_19416dup

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.1484_1485dup MANE Select ENSP00000302728.4:p.Val496MetfsTer4
ENST00000304895.8:c.1484_1485dup ENSP00000302728.4:p.Val496MetfsTer4
ENST00000421103.5:c.1046_1047dup ENSP00000391390.1:p.Val350MetfsTer4
ENST00000430730.5:c.*751_*752dup ENSP00000411859.1:n.*751_*752dup
ENST00000447929.5:c.*864_*865dup ENSP00000411262.1:n.*864_*865dup
ENST00000461622.1:n.9_10dup
ENST00000462371.1:n.522_523dup
ENST00000466883.5:n.1874_1875dup
NM_000181.3:c.1484_1485dup NP_000172.2:p.Val496MetfsTer4
NM_001284290.1:c.1046_1047dup NP_001271219.1:p.Val350MetfsTer4
NM_001293104.1:c.914_915dup NP_001280033.1:p.Val306MetfsTer4
NM_001293105.1:c.827_828dup NP_001280034.1:p.Val277MetfsTer4
NR_120531.1:n.1530_1531dup
XM_005250297.3:c.1331_1332dup XP_005250354.1:p.Val445MetfsTer4
XM_011516113.1:c.983_984dup XP_011514415.1:p.Val329MetfsTer4
XM_011516114.1:c.812_813dup XP_011514416.1:p.Val272MetfsTer4
XR_927461.1:n.1570_1571dup
XM_005250297.4:c.1331_1332dup XP_005250354.1:p.Val445MetfsTer4
XM_011516114.2:c.812_813dup XP_011514416.1:p.Val272MetfsTer4
XM_017012091.1:c.830_831dup XP_016867580.1:p.Val278MetfsTer4
XM_017012092.1:c.761_762dup XP_016867581.1:p.Val255MetfsTer4
XM_017012093.2:c.659_660dup XP_016867582.1:p.Val221MetfsTer4
XR_001744658.2:n.1291_1292dup
XR_001744659.2:n.1404_1405dup
XR_001744660.2:n.1336_1337dup
XR_001744661.2:n.1251_1252dup
XR_927461.3:n.1489_1490dup
NM_000181.4:c.1484_1485dup MANE Select NP_000172.2:p.Val496MetfsTer4
NM_001284290.2:c.1046_1047dup NP_001271219.1:p.Val350MetfsTer4
NM_001293104.2:c.914_915dup NP_001280033.1:p.Val306MetfsTer4
NM_001293105.2:c.827_828dup NP_001280034.1:p.Val277MetfsTer4
NR_120531.2:n.1429_1430dup