Canonical Allele Identifier: CA337853184

Gene: AGRN

Linked Data

• dbSNP Id: rs1163840641
• gnomAD v2: 1-983606-GC-G
• gnomAD v4: 1-1048226-GC-G
• MyVariant Identifiers: chr1:g.983607del (hg19) ; chr1:g.1048228del (hg38) ; chr1:g.1048227del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048231del , CM000663.2:g.1048231del	GRCh38
NC_000001.10:g.983611del , CM000663.1:g.983611del	GRCh37
NC_000001.9:g.973474del	NCBI36
NG_016346.1:g.33109del , LRG_198:g.33109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3971del MANE Select	ENSP00000368678.2:p.Pro1324ArgfsTer?
ENST00000651234.1:c.3656del	ENSP00000499046.1:p.Pro1219ArgfsTer?
ENST00000652369.1:c.3656del	ENSP00000498543.1:p.Pro1219ArgfsTer?
ENST00000379370.6:c.3971del	ENSP00000368678.2:p.Pro1324ArgfsTer?
ENST00000620552.4:c.3557del	ENSP00000484607.1:p.Pro1186ArgfsTer?
NM_001305275.1:c.3971del	NP_001292204.1:p.Pro1324ArgfsTer?
NM_198576.3:c.3971del	NP_940978.2:p.Pro1324ArgfsTer?
XM_005244749.2:c.3971del	XP_005244806.1:p.Pro1324ArgfsTer?
XM_006710635.2:c.3971del	XP_006710698.1:p.Pro1324ArgfsTer?
XM_011541429.1:c.3971del	XP_011539731.1:p.Pro1324ArgfsTer?
XM_011541430.1:c.3098del	XP_011539732.1:p.Pro1033ArgfsTer?
XM_011541431.1:c.2237del	XP_011539733.1:p.Pro746ArgfsTer?
XR_946650.1:n.4038del
NM_001364727.1:c.3656del	NP_001351656.1:p.Pro1219ArgfsTer?
XM_005244749.3:c.3971del	XP_005244806.1:p.Pro1324ArgfsTer?
XM_011541429.2:c.3971del	XP_011539731.1:p.Pro1324ArgfsTer?
XR_946650.2:n.4042del
NM_001305275.2:c.3971del	NP_001292204.1:p.Pro1324ArgfsTer?
NM_198576.4:c.3971del MANE Select	NP_940978.2:p.Pro1324ArgfsTer?
NM_001364727.2:c.3656del	NP_001351656.1:p.Pro1219ArgfsTer?