Canonical Allele Identifier: CA509787

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1643697
• ClinVar RCV Id: RCV002138430
• dbSNP Id: rs368348742
• ExAC: 1:985726 CA / C
• gnomAD v2: 1-985726-CA-C
• gnomAD v3: 1-1050346-CA-C
• gnomAD v4: 1-1050346-CA-C
• MyVariant Identifiers: chr1:g.985727del (hg19) ; chr1:g.1050347del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050347del , CM000663.2:g.1050347del	GRCh38
NC_000001.10:g.985727del , CM000663.1:g.985727del	GRCh37
NC_000001.9:g.975590del	NCBI36
NG_016346.1:g.35225del , LRG_198:g.35225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4976+18del MANE Select	ENSP00000368678.2:n.4976+18del
ENST00000651234.1:c.4661+18del	ENSP00000499046.1:n.4661+18del
ENST00000652369.1:c.4661+18del	ENSP00000498543.1:n.4661+18del
ENST00000379370.6:c.4976+18del	ENSP00000368678.2:n.4976+18del
ENST00000620552.4:c.4562+18del	ENSP00000484607.1:n.4562+18del
NM_001305275.1:c.4976+18del	NP_001292204.1:n.4976+18del
NM_198576.3:c.4976+18del	NP_940978.2:n.4976+18del
XM_005244749.2:c.4976+18del	XP_005244806.1:n.4976+18del
XM_006710635.2:c.4976+18del	XP_006710698.1:n.4976+18del
XM_011541429.1:c.4976+18del	XP_011539731.1:n.4976+18del
XM_011541430.1:c.4103+18del	XP_011539732.1:n.4103+18del
XM_011541431.1:c.3242+18del	XP_011539733.1:n.3242+18del
XR_946650.1:n.5043+18del
NM_001364727.1:c.4661+18del	NP_001351656.1:n.4661+18del
XM_005244749.3:c.4976+18del	XP_005244806.1:n.4976+18del
XM_011541429.2:c.4976+18del	XP_011539731.1:n.4976+18del
XR_946650.2:n.5047+18del
NM_001305275.2:c.4976+18del	NP_001292204.1:n.4976+18del
NM_198576.4:c.4976+18del MANE Select	NP_940978.2:n.4976+18del
NM_001364727.2:c.4661+18del	NP_001351656.1:n.4661+18del