Canonical Allele Identifier: CA2642496663

Gene: AGRN

Linked Data

• gnomAD v4: 1-1049702-C-CACCCCTGCCTGCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049712_1049726dup , CM000663.2:g.1049712_1049726dup	GRCh38
NC_000001.10:g.985092_985106dup , CM000663.1:g.985092_985106dup	GRCh37
NC_000001.9:g.974955_974969dup	NCBI36
NG_016346.1:g.34590_34604dup , LRG_198:g.34590_34604dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4661_4675dup MANE Select	ENSP00000368678.2:p.Cys1558_His1559insLeuProAsnProCys
ENST00000651234.1:c.4346_4360dup	ENSP00000499046.1:p.Cys1453_His1454insLeuProAsnProCys
ENST00000652369.1:c.4346_4360dup	ENSP00000498543.1:p.Cys1453_His1454insLeuProAsnProCys
ENST00000379370.6:c.4661_4675dup	ENSP00000368678.2:p.Cys1558_His1559insLeuProAsnProCys
ENST00000620552.4:c.4247_4261dup	ENSP00000484607.1:p.Cys1420_His1421insLeuProAsnProCys
NM_001305275.1:c.4661_4675dup	NP_001292204.1:p.Cys1558_His1559insLeuProAsnProCys
NM_198576.3:c.4661_4675dup	NP_940978.2:p.Cys1558_His1559insLeuProAsnProCys
XM_005244749.2:c.4661_4675dup	XP_005244806.1:p.Cys1558_His1559insLeuProAsnProCys
XM_006710635.2:c.4661_4675dup	XP_006710698.1:p.Cys1558_His1559insLeuProAsnProCys
XM_011541429.1:c.4661_4675dup	XP_011539731.1:p.Cys1558_His1559insLeuProAsnProCys
XM_011541430.1:c.3788_3802dup	XP_011539732.1:p.Cys1267_His1268insLeuProAsnProCys
XM_011541431.1:c.2927_2941dup	XP_011539733.1:p.Cys980_His981insLeuProAsnProCys
XR_946650.1:n.4728_4742dup
NM_001364727.1:c.4346_4360dup	NP_001351656.1:p.Cys1453_His1454insLeuProAsnProCys
XM_005244749.3:c.4661_4675dup	XP_005244806.1:p.Cys1558_His1559insLeuProAsnProCys
XM_011541429.2:c.4661_4675dup	XP_011539731.1:p.Cys1558_His1559insLeuProAsnProCys
XR_946650.2:n.4732_4746dup
NM_001305275.2:c.4661_4675dup	NP_001292204.1:p.Cys1558_His1559insLeuProAsnProCys
NM_198576.4:c.4661_4675dup MANE Select	NP_940978.2:p.Cys1558_His1559insLeuProAsnProCys
NM_001364727.2:c.4346_4360dup	NP_001351656.1:p.Cys1453_His1454insLeuProAsnProCys