Canonical Allele Identifier: CA2574258711
Gene: AGRN HGNC NCBI

Linked Data

gnomAD v4: 1-1048170-GC-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048175del , CM000663.2:g.1048175del GRCh38
NC_000001.10:g.983555del , CM000663.1:g.983555del GRCh37
NC_000001.9:g.973418del NCBI36
NG_016346.1:g.33053del , LRG_198:g.33053del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3915del MANE Select ENSP00000368678.2:p.Thr1306ProfsTer?
ENST00000651234.1:c.3600del ENSP00000499046.1:p.Thr1201ProfsTer?
ENST00000652369.1:c.3600del ENSP00000498543.1:p.Thr1201ProfsTer?
ENST00000379370.6:c.3915del ENSP00000368678.2:p.Thr1306ProfsTer?
ENST00000620552.4:c.3501del ENSP00000484607.1:p.Thr1168ProfsTer?
NM_001305275.1:c.3915del NP_001292204.1:p.Thr1306ProfsTer?
NM_198576.3:c.3915del NP_940978.2:p.Thr1306ProfsTer?
XM_005244749.2:c.3915del XP_005244806.1:p.Thr1306ProfsTer?
XM_006710635.2:c.3915del XP_006710698.1:p.Thr1306ProfsTer?
XM_011541429.1:c.3915del XP_011539731.1:p.Thr1306ProfsTer?
XM_011541430.1:c.3042del XP_011539732.1:p.Thr1015ProfsTer?
XM_011541431.1:c.2181del XP_011539733.1:p.Thr728ProfsTer?
XR_946650.1:n.3982del
NM_001364727.1:c.3600del NP_001351656.1:p.Thr1201ProfsTer?
XM_005244749.3:c.3915del XP_005244806.1:p.Thr1306ProfsTer?
XM_011541429.2:c.3915del XP_011539731.1:p.Thr1306ProfsTer?
XR_946650.2:n.3986del
NM_001305275.2:c.3915del NP_001292204.1:p.Thr1306ProfsTer?
NM_198576.4:c.3915del MANE Select NP_940978.2:p.Thr1306ProfsTer?
NM_001364727.2:c.3600del NP_001351656.1:p.Thr1201ProfsTer?