Canonical Allele Identifier: CA520659116
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs1394220038
gnomAD v2: 1-983313-CT-C
gnomAD v4: 1-1047933-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1047934del , CM000663.2:g.1047934del GRCh38
NC_000001.10:g.983314del , CM000663.1:g.983314del GRCh37
NC_000001.9:g.973177del NCBI36
NG_016346.1:g.32812del , LRG_198:g.32812del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3751+39del MANE Select ENSP00000368678.2:n.3751+39del
ENST00000651234.1:c.3436+39del ENSP00000499046.1:n.3436+39del
ENST00000652369.1:c.3436+39del ENSP00000498543.1:n.3436+39del
ENST00000379370.6:c.3751+39del ENSP00000368678.2:n.3751+39del
ENST00000620552.4:c.3337+39del ENSP00000484607.1:n.3337+39del
NM_001305275.1:c.3751+39del NP_001292204.1:n.3751+39del
NM_198576.3:c.3751+39del NP_940978.2:n.3751+39del
XM_005244749.2:c.3751+39del XP_005244806.1:n.3751+39del
XM_006710635.2:c.3751+39del XP_006710698.1:n.3751+39del
XM_011541429.1:c.3751+39del XP_011539731.1:n.3751+39del
XM_011541430.1:c.2878+39del XP_011539732.1:n.2878+39del
XM_011541431.1:c.2017+39del XP_011539733.1:n.2017+39del
XR_946650.1:n.3818+39del
NM_001364727.1:c.3436+39del NP_001351656.1:n.3436+39del
XM_005244749.3:c.3751+39del XP_005244806.1:n.3751+39del
XM_011541429.2:c.3751+39del XP_011539731.1:n.3751+39del
XR_946650.2:n.3822+39del
NM_001305275.2:c.3751+39del NP_001292204.1:n.3751+39del
NM_198576.4:c.3751+39del MANE Select NP_940978.2:n.3751+39del
NM_001364727.2:c.3436+39del NP_001351656.1:n.3436+39del