Canonical Allele Identifier: CA520659144

Gene: AGRN

Linked Data

• gnomAD v2: 1-983660-C-CG
• gnomAD v3: 1-1048280-C-CG
• gnomAD v4: 1-1048280-C-CG
• MyVariant Identifiers: chr1:g.983661_983662insG (hg19) ; chr1:g.1048281_1048282insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048286dup , CM000663.2:g.1048286dup	GRCh38
NC_000001.10:g.983666dup , CM000663.1:g.983666dup	GRCh37
NC_000001.9:g.973529dup	NCBI36
NG_016346.1:g.33164dup , LRG_198:g.33164dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4026dup MANE Select	ENSP00000368678.2:p.Thr1343AspfsTer25
ENST00000651234.1:c.3711dup	ENSP00000499046.1:p.Thr1238AspfsTer25
ENST00000652369.1:c.3711dup	ENSP00000498543.1:p.Thr1238AspfsTer25
ENST00000379370.6:c.4026dup	ENSP00000368678.2:p.Thr1343AspfsTer25
ENST00000620552.4:c.3612dup	ENSP00000484607.1:p.Thr1205AspfsTer25
NM_001305275.1:c.4026dup	NP_001292204.1:p.Thr1343AspfsTer25
NM_198576.3:c.4026dup	NP_940978.2:p.Thr1343AspfsTer25
XM_005244749.2:c.4026dup	XP_005244806.1:p.Thr1343AspfsTer25
XM_006710635.2:c.4026dup	XP_006710698.1:p.Thr1343AspfsTer25
XM_011541429.1:c.4026dup	XP_011539731.1:p.Thr1343AspfsTer25
XM_011541430.1:c.3153dup	XP_011539732.1:p.Thr1052AspfsTer25
XM_011541431.1:c.2292dup	XP_011539733.1:p.Thr765AspfsTer25
XR_946650.1:n.4093dup
NM_001364727.1:c.3711dup	NP_001351656.1:p.Thr1238AspfsTer25
XM_005244749.3:c.4026dup	XP_005244806.1:p.Thr1343AspfsTer25
XM_011541429.2:c.4026dup	XP_011539731.1:p.Thr1343AspfsTer25
XR_946650.2:n.4097dup
NM_001305275.2:c.4026dup	NP_001292204.1:p.Thr1343AspfsTer25
NM_198576.4:c.4026dup MANE Select	NP_940978.2:p.Thr1343AspfsTer25
NM_001364727.2:c.3711dup	NP_001351656.1:p.Thr1238AspfsTer25