Canonical Allele Identifier: CA509221

Gene: AGRN

Linked Data

• dbSNP Id: rs777430689
• ExAC: 1:983319 TG / T
• gnomAD v2: 1-983319-TG-T
• gnomAD v3: 1-1047939-TG-T
• gnomAD v4: 1-1047939-TG-T
• MyVariant Identifiers: chr1:g.983320del (hg19) ; chr1:g.1047940del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047940del , CM000663.2:g.1047940del	GRCh38
NC_000001.10:g.983320del , CM000663.1:g.983320del	GRCh37
NC_000001.9:g.973183del	NCBI36
NG_016346.1:g.32818del , LRG_198:g.32818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3751+45del MANE Select	ENSP00000368678.2:n.3751+45del
ENST00000651234.1:c.3436+45del	ENSP00000499046.1:n.3436+45del
ENST00000652369.1:c.3436+45del	ENSP00000498543.1:n.3436+45del
ENST00000379370.6:c.3751+45del	ENSP00000368678.2:n.3751+45del
ENST00000620552.4:c.3337+45del	ENSP00000484607.1:n.3337+45del
NM_001305275.1:c.3751+45del	NP_001292204.1:n.3751+45del
NM_198576.3:c.3751+45del	NP_940978.2:n.3751+45del
XM_005244749.2:c.3751+45del	XP_005244806.1:n.3751+45del
XM_006710635.2:c.3751+45del	XP_006710698.1:n.3751+45del
XM_011541429.1:c.3751+45del	XP_011539731.1:n.3751+45del
XM_011541430.1:c.2878+45del	XP_011539732.1:n.2878+45del
XM_011541431.1:c.2017+45del	XP_011539733.1:n.2017+45del
XR_946650.1:n.3818+45del
NM_001364727.1:c.3436+45del	NP_001351656.1:n.3436+45del
XM_005244749.3:c.3751+45del	XP_005244806.1:n.3751+45del
XM_011541429.2:c.3751+45del	XP_011539731.1:n.3751+45del
XR_946650.2:n.3822+45del
NM_001305275.2:c.3751+45del	NP_001292204.1:n.3751+45del
NM_198576.4:c.3751+45del MANE Select	NP_940978.2:n.3751+45del
NM_001364727.2:c.3436+45del	NP_001351656.1:n.3436+45del