Canonical Allele Identifier: CA997655002
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs1480073632
gnomAD v3: 1-1048187-G-GC
gnomAD v4: 1-1048187-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048193dup , CM000663.2:g.1048193dup GRCh38
NC_000001.10:g.983573dup , CM000663.1:g.983573dup GRCh37
NC_000001.9:g.973436dup NCBI36
NG_016346.1:g.33071dup , LRG_198:g.33071dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3933dup MANE Select ENSP00000368678.2:p.Thr1312HisfsTer23
ENST00000651234.1:c.3618dup ENSP00000499046.1:p.Thr1207HisfsTer23
ENST00000652369.1:c.3618dup ENSP00000498543.1:p.Thr1207HisfsTer23
ENST00000379370.6:c.3933dup ENSP00000368678.2:p.Thr1312HisfsTer23
ENST00000620552.4:c.3519dup ENSP00000484607.1:p.Thr1174HisfsTer23
NM_001305275.1:c.3933dup NP_001292204.1:p.Thr1312HisfsTer23
NM_198576.3:c.3933dup NP_940978.2:p.Thr1312HisfsTer23
XM_005244749.2:c.3933dup XP_005244806.1:p.Thr1312HisfsTer23
XM_006710635.2:c.3933dup XP_006710698.1:p.Thr1312HisfsTer23
XM_011541429.1:c.3933dup XP_011539731.1:p.Thr1312HisfsTer23
XM_011541430.1:c.3060dup XP_011539732.1:p.Thr1021HisfsTer23
XM_011541431.1:c.2199dup XP_011539733.1:p.Thr734HisfsTer23
XR_946650.1:n.4000dup
NM_001364727.1:c.3618dup NP_001351656.1:p.Thr1207HisfsTer23
XM_005244749.3:c.3933dup XP_005244806.1:p.Thr1312HisfsTer23
XM_011541429.2:c.3933dup XP_011539731.1:p.Thr1312HisfsTer23
XR_946650.2:n.4004dup
NM_001305275.2:c.3933dup NP_001292204.1:p.Thr1312HisfsTer23
NM_198576.4:c.3933dup MANE Select NP_940978.2:p.Thr1312HisfsTer23
NM_001364727.2:c.3618dup NP_001351656.1:p.Thr1207HisfsTer23