Canonical Allele Identifier: CA509784

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1600218
• ClinVar RCV Id: RCV002117986
• dbSNP Id: rs747502112
• ExAC: 1:985715 T / TG
• gnomAD v2: 1-985715-T-TG
• gnomAD v3: 1-1050335-T-TG
• gnomAD v4: 1-1050335-T-TG
• MyVariant Identifiers: chr1:g.985715_985716insG (hg19) ; chr1:g.1050335_1050336insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050339dup , CM000663.2:g.1050339dup	GRCh38
NC_000001.10:g.985719dup , CM000663.1:g.985719dup	GRCh37
NC_000001.9:g.975582dup	NCBI36
NG_016346.1:g.35217dup , LRG_198:g.35217dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4976+10dup MANE Select	ENSP00000368678.2:n.4976+10dup
ENST00000651234.1:c.4661+10dup	ENSP00000499046.1:n.4661+10dup
ENST00000652369.1:c.4661+10dup	ENSP00000498543.1:n.4661+10dup
ENST00000379370.6:c.4976+10dup	ENSP00000368678.2:n.4976+10dup
ENST00000620552.4:c.4562+10dup	ENSP00000484607.1:n.4562+10dup
NM_001305275.1:c.4976+10dup	NP_001292204.1:n.4976+10dup
NM_198576.3:c.4976+10dup	NP_940978.2:n.4976+10dup
XM_005244749.2:c.4976+10dup	XP_005244806.1:n.4976+10dup
XM_006710635.2:c.4976+10dup	XP_006710698.1:n.4976+10dup
XM_011541429.1:c.4976+10dup	XP_011539731.1:n.4976+10dup
XM_011541430.1:c.4103+10dup	XP_011539732.1:n.4103+10dup
XM_011541431.1:c.3242+10dup	XP_011539733.1:n.3242+10dup
XR_946650.1:n.5043+10dup
NM_001364727.1:c.4661+10dup	NP_001351656.1:n.4661+10dup
XM_005244749.3:c.4976+10dup	XP_005244806.1:n.4976+10dup
XM_011541429.2:c.4976+10dup	XP_011539731.1:n.4976+10dup
XR_946650.2:n.5047+10dup
NM_001305275.2:c.4976+10dup	NP_001292204.1:n.4976+10dup
NM_198576.4:c.4976+10dup MANE Select	NP_940978.2:n.4976+10dup
NM_001364727.2:c.4661+10dup	NP_001351656.1:n.4661+10dup