Canonical Allele Identifier: CA520625227

Gene: AGRN

Linked Data

• dbSNP Id: rs1367634651
• gnomAD v2: 1-985935-T-TC
• gnomAD v4: 1-1050555-T-TC
• MyVariant Identifiers: chr1:g.985935_985936insC (hg19) ; chr1:g.1050555_1050556insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050557dup , CM000663.2:g.1050557dup	GRCh38
NC_000001.10:g.985937dup , CM000663.1:g.985937dup	GRCh37
NC_000001.9:g.975800dup	NCBI36
NG_016346.1:g.35435dup , LRG_198:g.35435dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.5107dup MANE Select	ENSP00000368678.2:p.Arg1703ProfsTer?
ENST00000651234.1:c.4792dup	ENSP00000499046.1:p.Arg1598ProfsTer?
ENST00000652369.1:c.4792dup	ENSP00000498543.1:p.Arg1598ProfsTer?
ENST00000379370.6:c.5107dup	ENSP00000368678.2:p.Arg1703ProfsTer?
ENST00000419249.1:c.2dup
ENST00000620552.4:c.4693dup	ENSP00000484607.1:p.Arg1565ProfsTer?
NM_001305275.1:c.5107dup	NP_001292204.1:p.Arg1703ProfsTer?
NM_198576.3:c.5107dup	NP_940978.2:p.Arg1703ProfsTer?
XM_005244749.2:c.5107dup	XP_005244806.1:p.Arg1703ProfsTer?
XM_006710635.2:c.5107dup	XP_006710698.1:p.Arg1703ProfsTer?
XM_011541429.1:c.5107dup	XP_011539731.1:p.Arg1703ProfsTer?
XM_011541430.1:c.4234dup	XP_011539732.1:p.Arg1412ProfsTer?
XM_011541431.1:c.3373dup	XP_011539733.1:p.Arg1125ProfsTer?
XR_946650.1:n.5174dup
NM_001364727.1:c.4792dup	NP_001351656.1:p.Arg1598ProfsTer?
XM_005244749.3:c.5107dup	XP_005244806.1:p.Arg1703ProfsTer?
XM_011541429.2:c.5107dup	XP_011539731.1:p.Arg1703ProfsTer?
XR_946650.2:n.5178dup
NM_001305275.2:c.5107dup	NP_001292204.1:p.Arg1703ProfsTer?
NM_198576.4:c.5107dup MANE Select	NP_940978.2:p.Arg1703ProfsTer?
NM_001364727.2:c.4792dup	NP_001351656.1:p.Arg1598ProfsTer?