Canonical Allele Identifier: CA2574258718
Gene: AGRN HGNC NCBI

Linked Data

gnomAD v4: 1-1048249-CA-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048252del , CM000663.2:g.1048252del GRCh38
NC_000001.10:g.983632del , CM000663.1:g.983632del GRCh37
NC_000001.9:g.973495del NCBI36
NG_016346.1:g.33130del , LRG_198:g.33130del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3992del MANE Select ENSP00000368678.2:p.Lys1331SerfsTer?
ENST00000651234.1:c.3677del ENSP00000499046.1:p.Lys1226SerfsTer?
ENST00000652369.1:c.3677del ENSP00000498543.1:p.Lys1226SerfsTer?
ENST00000379370.6:c.3992del ENSP00000368678.2:p.Lys1331SerfsTer?
ENST00000620552.4:c.3578del ENSP00000484607.1:p.Lys1193SerfsTer?
NM_001305275.1:c.3992del NP_001292204.1:p.Lys1331SerfsTer?
NM_198576.3:c.3992del NP_940978.2:p.Lys1331SerfsTer?
XM_005244749.2:c.3992del XP_005244806.1:p.Lys1331SerfsTer?
XM_006710635.2:c.3992del XP_006710698.1:p.Lys1331SerfsTer?
XM_011541429.1:c.3992del XP_011539731.1:p.Lys1331SerfsTer?
XM_011541430.1:c.3119del XP_011539732.1:p.Lys1040SerfsTer?
XM_011541431.1:c.2258del XP_011539733.1:p.Lys753SerfsTer?
XR_946650.1:n.4059del
NM_001364727.1:c.3677del NP_001351656.1:p.Lys1226SerfsTer?
XM_005244749.3:c.3992del XP_005244806.1:p.Lys1331SerfsTer?
XM_011541429.2:c.3992del XP_011539731.1:p.Lys1331SerfsTer?
XR_946650.2:n.4063del
NM_001305275.2:c.3992del NP_001292204.1:p.Lys1331SerfsTer?
NM_198576.4:c.3992del MANE Select NP_940978.2:p.Lys1331SerfsTer?
NM_001364727.2:c.3677del NP_001351656.1:p.Lys1226SerfsTer?