Canonical Allele Identifier: CA509830

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1476974
• ClinVar RCV Id: RCV001998263
• dbSNP Id: rs765397453
• ExAC: 1:985878 AGAC / A
• gnomAD v2: 1-985878-AGAC-A
• gnomAD v3: 1-1050498-AGAC-A
• gnomAD v4: 1-1050498-AGAC-A
• MyVariant Identifiers: chr1:g.985879_985881del (hg19) ; chr1:g.1050500_1050502del (hg38) ; chr1:g.1050499_1050501del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050500_1050502del , CM000663.2:g.1050500_1050502del	GRCh38
NC_000001.10:g.985880_985882del , CM000663.1:g.985880_985882del	GRCh37
NC_000001.9:g.975743_975745del	NCBI36
NG_016346.1:g.35378_35380del , LRG_198:g.35378_35380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.5050_5052del MANE Select	ENSP00000368678.2:p.Thr1684del
ENST00000651234.1:c.4735_4737del	ENSP00000499046.1:p.Thr1579del
ENST00000652369.1:c.4735_4737del	ENSP00000498543.1:p.Thr1579del
ENST00000379370.6:c.5050_5052del	ENSP00000368678.2:p.Thr1684del
ENST00000620552.4:c.4636_4638del	ENSP00000484607.1:p.Thr1546del
NM_001305275.1:c.5050_5052del	NP_001292204.1:p.Thr1684del
NM_198576.3:c.5050_5052del	NP_940978.2:p.Thr1684del
XM_005244749.2:c.5050_5052del	XP_005244806.1:p.Thr1684del
XM_006710635.2:c.5050_5052del	XP_006710698.1:p.Thr1684del
XM_011541429.1:c.5050_5052del	XP_011539731.1:p.Thr1684del
XM_011541430.1:c.4177_4179del	XP_011539732.1:p.Thr1393del
XM_011541431.1:c.3316_3318del	XP_011539733.1:p.Thr1106del
XR_946650.1:n.5117_5119del
NM_001364727.1:c.4735_4737del	NP_001351656.1:p.Thr1579del
XM_005244749.3:c.5050_5052del	XP_005244806.1:p.Thr1684del
XM_011541429.2:c.5050_5052del	XP_011539731.1:p.Thr1684del
XR_946650.2:n.5121_5123del
NM_001305275.2:c.5050_5052del	NP_001292204.1:p.Thr1684del
NM_198576.4:c.5050_5052del MANE Select	NP_940978.2:p.Thr1684del
NM_001364727.2:c.4735_4737del	NP_001351656.1:p.Thr1579del