Canonical Allele Identifier: CA2642492197
Gene: AGRN HGNC NCBI

Linked Data

gnomAD v4: 1-1050236-CG-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1050240del , CM000663.2:g.1050240del GRCh38
NC_000001.10:g.985620del , CM000663.1:g.985620del GRCh37
NC_000001.9:g.975483del NCBI36
NG_016346.1:g.35118del , LRG_198:g.35118del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.4887del MANE Select ENSP00000368678.2:p.Gln1630ArgfsTer19
ENST00000651234.1:c.4572del ENSP00000499046.1:p.Gln1525ArgfsTer19
ENST00000652369.1:c.4572del ENSP00000498543.1:p.Gln1525ArgfsTer19
ENST00000379370.6:c.4887del ENSP00000368678.2:p.Gln1630ArgfsTer19
ENST00000620552.4:c.4473del ENSP00000484607.1:p.Gln1492ArgfsTer19
NM_001305275.1:c.4887del NP_001292204.1:p.Gln1630ArgfsTer19
NM_198576.3:c.4887del NP_940978.2:p.Gln1630ArgfsTer19
XM_005244749.2:c.4887del XP_005244806.1:p.Gln1630ArgfsTer19
XM_006710635.2:c.4887del XP_006710698.1:p.Gln1630ArgfsTer19
XM_011541429.1:c.4887del XP_011539731.1:p.Gln1630ArgfsTer19
XM_011541430.1:c.4014del XP_011539732.1:p.Gln1339ArgfsTer19
XM_011541431.1:c.3153del XP_011539733.1:p.Gln1052ArgfsTer19
XR_946650.1:n.4954del
NM_001364727.1:c.4572del NP_001351656.1:p.Gln1525ArgfsTer19
XM_005244749.3:c.4887del XP_005244806.1:p.Gln1630ArgfsTer19
XM_011541429.2:c.4887del XP_011539731.1:p.Gln1630ArgfsTer19
XR_946650.2:n.4958del
NM_001305275.2:c.4887del NP_001292204.1:p.Gln1630ArgfsTer19
NM_198576.4:c.4887del MANE Select NP_940978.2:p.Gln1630ArgfsTer19
NM_001364727.2:c.4572del NP_001351656.1:p.Gln1525ArgfsTer19