Canonical Allele Identifier: CA520625226

Gene: AGRN

Linked Data

• dbSNP Id: rs1302849272
• gnomAD v2: 1-985898-TTCG-T
• MyVariant Identifiers: chr1:g.985899_985901del (hg19) ; chr1:g.1050519_1050521del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050520_1050522del , CM000663.2:g.1050520_1050522del	GRCh38
NC_000001.10:g.985900_985902del , CM000663.1:g.985900_985902del	GRCh37
NC_000001.9:g.975763_975765del	NCBI36
NG_016346.1:g.35398_35400del , LRG_198:g.35398_35400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.5070_5072del MANE Select	ENSP00000368678.2:p.Phe1690_Val1691delinsLeu
ENST00000651234.1:c.4755_4757del	ENSP00000499046.1:p.Phe1585_Val1586delinsLeu
ENST00000652369.1:c.4755_4757del	ENSP00000498543.1:p.Phe1585_Val1586delinsLeu
ENST00000379370.6:c.5070_5072del	ENSP00000368678.2:p.Phe1690_Val1691delinsLeu
ENST00000620552.4:c.4656_4658del	ENSP00000484607.1:p.Phe1552_Val1553delinsLeu
NM_001305275.1:c.5070_5072del	NP_001292204.1:p.Phe1690_Val1691delinsLeu
NM_198576.3:c.5070_5072del	NP_940978.2:p.Phe1690_Val1691delinsLeu
XM_005244749.2:c.5070_5072del	XP_005244806.1:p.Phe1690_Val1691delinsLeu
XM_006710635.2:c.5070_5072del	XP_006710698.1:p.Phe1690_Val1691delinsLeu
XM_011541429.1:c.5070_5072del	XP_011539731.1:p.Phe1690_Val1691delinsLeu
XM_011541430.1:c.4197_4199del	XP_011539732.1:p.Phe1399_Val1400delinsLeu
XM_011541431.1:c.3336_3338del	XP_011539733.1:p.Phe1112_Val1113delinsLeu
XR_946650.1:n.5137_5139del
NM_001364727.1:c.4755_4757del	NP_001351656.1:p.Phe1585_Val1586delinsLeu
XM_005244749.3:c.5070_5072del	XP_005244806.1:p.Phe1690_Val1691delinsLeu
XM_011541429.2:c.5070_5072del	XP_011539731.1:p.Phe1690_Val1691delinsLeu
XR_946650.2:n.5141_5143del
NM_001305275.2:c.5070_5072del	NP_001292204.1:p.Phe1690_Val1691delinsLeu
NM_198576.4:c.5070_5072del MANE Select	NP_940978.2:p.Phe1690_Val1691delinsLeu
NM_001364727.2:c.4755_4757del	NP_001351656.1:p.Phe1585_Val1586delinsLeu