Canonical Allele Identifier: CA2642492208
Gene: AGRN HGNC NCBI

Linked Data

gnomAD v4: 1-1048233-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048239dup , CM000663.2:g.1048239dup GRCh38
NC_000001.10:g.983619dup , CM000663.1:g.983619dup GRCh37
NC_000001.9:g.973482dup NCBI36
NG_016346.1:g.33117dup , LRG_198:g.33117dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3979dup MANE Select ENSP00000368678.2:p.Gln1327ProfsTer8
ENST00000651234.1:c.3664dup ENSP00000499046.1:p.Gln1222ProfsTer8
ENST00000652369.1:c.3664dup ENSP00000498543.1:p.Gln1222ProfsTer8
ENST00000379370.6:c.3979dup ENSP00000368678.2:p.Gln1327ProfsTer8
ENST00000620552.4:c.3565dup ENSP00000484607.1:p.Gln1189ProfsTer8
NM_001305275.1:c.3979dup NP_001292204.1:p.Gln1327ProfsTer8
NM_198576.3:c.3979dup NP_940978.2:p.Gln1327ProfsTer8
XM_005244749.2:c.3979dup XP_005244806.1:p.Gln1327ProfsTer8
XM_006710635.2:c.3979dup XP_006710698.1:p.Gln1327ProfsTer8
XM_011541429.1:c.3979dup XP_011539731.1:p.Gln1327ProfsTer8
XM_011541430.1:c.3106dup XP_011539732.1:p.Gln1036ProfsTer8
XM_011541431.1:c.2245dup XP_011539733.1:p.Gln749ProfsTer8
XR_946650.1:n.4046dup
NM_001364727.1:c.3664dup NP_001351656.1:p.Gln1222ProfsTer8
XM_005244749.3:c.3979dup XP_005244806.1:p.Gln1327ProfsTer8
XM_011541429.2:c.3979dup XP_011539731.1:p.Gln1327ProfsTer8
XR_946650.2:n.4050dup
NM_001305275.2:c.3979dup NP_001292204.1:p.Gln1327ProfsTer8
NM_198576.4:c.3979dup MANE Select NP_940978.2:p.Gln1327ProfsTer8
NM_001364727.2:c.3664dup NP_001351656.1:p.Gln1222ProfsTer8