Canonical Allele Identifier: CA2642496722
Gene: AGRN HGNC NCBI

Linked Data

gnomAD v4: 1-1049713-GC-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1049716del , CM000663.2:g.1049716del GRCh38
NC_000001.10:g.985096del , CM000663.1:g.985096del GRCh37
NC_000001.9:g.974959del NCBI36
NG_016346.1:g.34594del , LRG_198:g.34594del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.4665del MANE Select ENSP00000368678.2:p.Asn1556ThrfsTer?
ENST00000651234.1:c.4350del ENSP00000499046.1:p.Asn1451ThrfsTer?
ENST00000652369.1:c.4350del ENSP00000498543.1:p.Asn1451ThrfsTer?
ENST00000379370.6:c.4665del ENSP00000368678.2:p.Asn1556ThrfsTer?
ENST00000620552.4:c.4251del ENSP00000484607.1:p.Asn1418ThrfsTer?
NM_001305275.1:c.4665del NP_001292204.1:p.Asn1556ThrfsTer?
NM_198576.3:c.4665del NP_940978.2:p.Asn1556ThrfsTer?
XM_005244749.2:c.4665del XP_005244806.1:p.Asn1556ThrfsTer?
XM_006710635.2:c.4665del XP_006710698.1:p.Asn1556ThrfsTer?
XM_011541429.1:c.4665del XP_011539731.1:p.Asn1556ThrfsTer?
XM_011541430.1:c.3792del XP_011539732.1:p.Asn1265ThrfsTer?
XM_011541431.1:c.2931del XP_011539733.1:p.Asn978ThrfsTer?
XR_946650.1:n.4732del
NM_001364727.1:c.4350del NP_001351656.1:p.Asn1451ThrfsTer?
XM_005244749.3:c.4665del XP_005244806.1:p.Asn1556ThrfsTer?
XM_011541429.2:c.4665del XP_011539731.1:p.Asn1556ThrfsTer?
XR_946650.2:n.4736del
NM_001305275.2:c.4665del NP_001292204.1:p.Asn1556ThrfsTer?
NM_198576.4:c.4665del MANE Select NP_940978.2:p.Asn1556ThrfsTer?
NM_001364727.2:c.4350del NP_001351656.1:p.Asn1451ThrfsTer?