Canonical Allele Identifier: CA997657415

Gene: AGRN

Linked Data

• ClinVar Variation Id: 2194292
• ClinVar RCV Id: RCV002647379
• dbSNP Id: rs1645221914
• gnomAD v3: 1-1049799-A-AGGGTGGGGCCGGGGCGGGTGG
• gnomAD v4: 1-1049799-A-AGGGTGGGGCCGGGGCGGGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049801_1049821dup , CM000663.2:g.1049801_1049821dup	GRCh38
NC_000001.10:g.985181_985201dup , CM000663.1:g.985181_985201dup	GRCh37
NC_000001.9:g.975044_975064dup	NCBI36
NG_016346.1:g.34679_34699dup , LRG_198:g.34679_34699dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4744+6_4744+26dup MANE Select	ENSP00000368678.2:n.4744+6_4744+26dup
ENST00000651234.1:c.4429+6_4429+26dup	ENSP00000499046.1:n.4429+6_4429+26dup
ENST00000652369.1:c.4429+6_4429+26dup	ENSP00000498543.1:n.4429+6_4429+26dup
ENST00000379370.6:c.4744+6_4744+26dup	ENSP00000368678.2:n.4744+6_4744+26dup
ENST00000620552.4:c.4330+6_4330+26dup	ENSP00000484607.1:n.4330+6_4330+26dup
NM_001305275.1:c.4744+6_4744+26dup	NP_001292204.1:n.4744+6_4744+26dup
NM_198576.3:c.4744+6_4744+26dup	NP_940978.2:n.4744+6_4744+26dup
XM_005244749.2:c.4744+6_4744+26dup	XP_005244806.1:n.4744+6_4744+26dup
XM_006710635.2:c.4744+6_4744+26dup	XP_006710698.1:n.4744+6_4744+26dup
XM_011541429.1:c.4744+6_4744+26dup	XP_011539731.1:n.4744+6_4744+26dup
XM_011541430.1:c.3871+6_3871+26dup	XP_011539732.1:n.3871+6_3871+26dup
XM_011541431.1:c.3010+6_3010+26dup	XP_011539733.1:n.3010+6_3010+26dup
XR_946650.1:n.4811+6_4811+26dup
NM_001364727.1:c.4429+6_4429+26dup	NP_001351656.1:n.4429+6_4429+26dup
XM_005244749.3:c.4744+6_4744+26dup	XP_005244806.1:n.4744+6_4744+26dup
XM_011541429.2:c.4744+6_4744+26dup	XP_011539731.1:n.4744+6_4744+26dup
XR_946650.2:n.4815+6_4815+26dup
NM_001305275.2:c.4744+6_4744+26dup	NP_001292204.1:n.4744+6_4744+26dup
NM_198576.4:c.4744+6_4744+26dup MANE Select	NP_940978.2:n.4744+6_4744+26dup
NM_001364727.2:c.4429+6_4429+26dup	NP_001351656.1:n.4429+6_4429+26dup