Canonical Allele Identifier: CA2683078522

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967832-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967834del , CM000669.2:g.65967834del	GRCh38
NC_000007.13:g.65432821del , CM000669.1:g.65432821del	GRCh37
NC_000007.12:g.65070256del	NCBI36
NG_016197.1:g.19482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1551del MANE Select	ENSP00000302728.4:p.Gln518SerfsTer?
ENST00000304895.8:c.1551del	ENSP00000302728.4:p.Gln518SerfsTer?
ENST00000421103.5:c.1113del	ENSP00000391390.1:p.Gln372SerfsTer?
ENST00000430730.5:c.*818del	ENSP00000411859.1:n.*818del
ENST00000447929.5:c.*931del	ENSP00000411262.1:n.*931del
ENST00000461622.1:n.76del
ENST00000462371.1:n.589del
ENST00000466883.5:n.1941del
NM_000181.3:c.1551del	NP_000172.2:p.Gln518SerfsTer?
NM_001284290.1:c.1113del	NP_001271219.1:p.Gln372SerfsTer?
NM_001293104.1:c.981del	NP_001280033.1:p.Gln328SerfsTer?
NM_001293105.1:c.894del	NP_001280034.1:p.Gln299SerfsTer?
NR_120531.1:n.1597del
XM_005250297.3:c.1398del	XP_005250354.1:p.Gln467SerfsTer?
XM_011516113.1:c.1050del	XP_011514415.1:p.Gln351SerfsTer?
XM_011516114.1:c.879del	XP_011514416.1:p.Gln294SerfsTer?
XR_927461.1:n.1637del
XM_005250297.4:c.1398del	XP_005250354.1:p.Gln467SerfsTer?
XM_011516114.2:c.879del	XP_011514416.1:p.Gln294SerfsTer?
XM_017012091.1:c.897del	XP_016867580.1:p.Gln300SerfsTer?
XM_017012092.1:c.828del	XP_016867581.1:p.Gln277SerfsTer?
XM_017012093.2:c.726del	XP_016867582.1:p.Gln243SerfsTer?
XR_001744658.2:n.1358del
XR_001744659.2:n.1471del
XR_001744660.2:n.1403del
XR_001744661.2:n.1318del
XR_927461.3:n.1556del
NM_000181.4:c.1551del MANE Select	NP_000172.2:p.Gln518SerfsTer?
NM_001284290.2:c.1113del	NP_001271219.1:p.Gln372SerfsTer?
NM_001293104.2:c.981del	NP_001280033.1:p.Gln328SerfsTer?
NM_001293105.2:c.894del	NP_001280034.1:p.Gln299SerfsTer?
NR_120531.2:n.1496del