Canonical Allele Identifier: CA2642492230

Gene: AGRN

Linked Data

• gnomAD v4: 1-1048259-T-TGACTCACAGCCCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048260_1048274dup , CM000663.2:g.1048260_1048274dup	GRCh38
NC_000001.10:g.983640_983654dup , CM000663.1:g.983640_983654dup	GRCh37
NC_000001.9:g.973503_973517dup	NCBI36
NG_016346.1:g.33138_33152dup , LRG_198:g.33138_33152dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4000_4014dup MANE Select	ENSP00000368678.2:p.Cys1338_Phe1339insAspSerGlnProCys
ENST00000651234.1:c.3685_3699dup	ENSP00000499046.1:p.Cys1233_Phe1234insAspSerGlnProCys
ENST00000652369.1:c.3685_3699dup	ENSP00000498543.1:p.Cys1233_Phe1234insAspSerGlnProCys
ENST00000379370.6:c.4000_4014dup	ENSP00000368678.2:p.Cys1338_Phe1339insAspSerGlnProCys
ENST00000620552.4:c.3586_3600dup	ENSP00000484607.1:p.Cys1200_Phe1201insAspSerGlnProCys
NM_001305275.1:c.4000_4014dup	NP_001292204.1:p.Cys1338_Phe1339insAspSerGlnProCys
NM_198576.3:c.4000_4014dup	NP_940978.2:p.Cys1338_Phe1339insAspSerGlnProCys
XM_005244749.2:c.4000_4014dup	XP_005244806.1:p.Cys1338_Phe1339insAspSerGlnProCys
XM_006710635.2:c.4000_4014dup	XP_006710698.1:p.Cys1338_Phe1339insAspSerGlnProCys
XM_011541429.1:c.4000_4014dup	XP_011539731.1:p.Cys1338_Phe1339insAspSerGlnProCys
XM_011541430.1:c.3127_3141dup	XP_011539732.1:p.Cys1047_Phe1048insAspSerGlnProCys
XM_011541431.1:c.2266_2280dup	XP_011539733.1:p.Cys760_Phe761insAspSerGlnProCys
XR_946650.1:n.4067_4081dup
NM_001364727.1:c.3685_3699dup	NP_001351656.1:p.Cys1233_Phe1234insAspSerGlnProCys
XM_005244749.3:c.4000_4014dup	XP_005244806.1:p.Cys1338_Phe1339insAspSerGlnProCys
XM_011541429.2:c.4000_4014dup	XP_011539731.1:p.Cys1338_Phe1339insAspSerGlnProCys
XR_946650.2:n.4071_4085dup
NM_001305275.2:c.4000_4014dup	NP_001292204.1:p.Cys1338_Phe1339insAspSerGlnProCys
NM_198576.4:c.4000_4014dup MANE Select	NP_940978.2:p.Cys1338_Phe1339insAspSerGlnProCys
NM_001364727.2:c.3685_3699dup	NP_001351656.1:p.Cys1233_Phe1234insAspSerGlnProCys