Canonical Allele Identifier: CA520625225

Gene: AGRN

Linked Data

• dbSNP Id: rs1303033750
• gnomAD v2: 1-985890-A-AGGGG
• gnomAD v4: 1-1050510-A-AGGGG
• MyVariant Identifiers: chr1:g.985890_985891insGGGG (hg19) ; chr1:g.1050510_1050511insGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050512_1050515dup , CM000663.2:g.1050512_1050515dup	GRCh38
NC_000001.10:g.985892_985895dup , CM000663.1:g.985892_985895dup	GRCh37
NC_000001.9:g.975755_975758dup	NCBI36
NG_016346.1:g.35390_35393dup , LRG_198:g.35390_35393dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.5062_5065dup MANE Select	ENSP00000368678.2:p.Asp1689GlyfsTer?
ENST00000651234.1:c.4747_4750dup	ENSP00000499046.1:p.Asp1584GlyfsTer?
ENST00000652369.1:c.4747_4750dup	ENSP00000498543.1:p.Asp1584GlyfsTer?
ENST00000379370.6:c.5062_5065dup	ENSP00000368678.2:p.Asp1689GlyfsTer?
ENST00000620552.4:c.4648_4651dup	ENSP00000484607.1:p.Asp1551GlyfsTer?
NM_001305275.1:c.5062_5065dup	NP_001292204.1:p.Asp1689GlyfsTer?
NM_198576.3:c.5062_5065dup	NP_940978.2:p.Asp1689GlyfsTer?
XM_005244749.2:c.5062_5065dup	XP_005244806.1:p.Asp1689GlyfsTer?
XM_006710635.2:c.5062_5065dup	XP_006710698.1:p.Asp1689GlyfsTer?
XM_011541429.1:c.5062_5065dup	XP_011539731.1:p.Asp1689GlyfsTer?
XM_011541430.1:c.4189_4192dup	XP_011539732.1:p.Asp1398GlyfsTer?
XM_011541431.1:c.3328_3331dup	XP_011539733.1:p.Asp1111GlyfsTer?
XR_946650.1:n.5129_5132dup
NM_001364727.1:c.4747_4750dup	NP_001351656.1:p.Asp1584GlyfsTer?
XM_005244749.3:c.5062_5065dup	XP_005244806.1:p.Asp1689GlyfsTer?
XM_011541429.2:c.5062_5065dup	XP_011539731.1:p.Asp1689GlyfsTer?
XR_946650.2:n.5133_5136dup
NM_001305275.2:c.5062_5065dup	NP_001292204.1:p.Asp1689GlyfsTer?
NM_198576.4:c.5062_5065dup MANE Select	NP_940978.2:p.Asp1689GlyfsTer?
NM_001364727.2:c.4747_4750dup	NP_001351656.1:p.Asp1584GlyfsTer?