Canonical Allele Identifier: CA520659143

Gene: AGRN

Linked Data

• gnomAD v2: 1-983660-CG-C
• gnomAD v4: 1-1048280-CG-C
• MyVariant Identifiers: chr1:g.983661del (hg19) ; chr1:g.1048281del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048286del , CM000663.2:g.1048286del	GRCh38
NC_000001.10:g.983666del , CM000663.1:g.983666del	GRCh37
NC_000001.9:g.973529del	NCBI36
NG_016346.1:g.33164del , LRG_198:g.33164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4026del MANE Select	ENSP00000368678.2:p.Thr1343ProfsTer?
ENST00000651234.1:c.3711del	ENSP00000499046.1:p.Thr1238ProfsTer?
ENST00000652369.1:c.3711del	ENSP00000498543.1:p.Thr1238ProfsTer?
ENST00000379370.6:c.4026del	ENSP00000368678.2:p.Thr1343ProfsTer?
ENST00000620552.4:c.3612del	ENSP00000484607.1:p.Thr1205ProfsTer?
NM_001305275.1:c.4026del	NP_001292204.1:p.Thr1343ProfsTer?
NM_198576.3:c.4026del	NP_940978.2:p.Thr1343ProfsTer?
XM_005244749.2:c.4026del	XP_005244806.1:p.Thr1343ProfsTer?
XM_006710635.2:c.4026del	XP_006710698.1:p.Thr1343ProfsTer?
XM_011541429.1:c.4026del	XP_011539731.1:p.Thr1343ProfsTer?
XM_011541430.1:c.3153del	XP_011539732.1:p.Thr1052ProfsTer?
XM_011541431.1:c.2292del	XP_011539733.1:p.Thr765ProfsTer?
XR_946650.1:n.4093del
NM_001364727.1:c.3711del	NP_001351656.1:p.Thr1238ProfsTer?
XM_005244749.3:c.4026del	XP_005244806.1:p.Thr1343ProfsTer?
XM_011541429.2:c.4026del	XP_011539731.1:p.Thr1343ProfsTer?
XR_946650.2:n.4097del
NM_001305275.2:c.4026del	NP_001292204.1:p.Thr1343ProfsTer?
NM_198576.4:c.4026del MANE Select	NP_940978.2:p.Thr1343ProfsTer?
NM_001364727.2:c.3711del	NP_001351656.1:p.Thr1238ProfsTer?