Canonical Allele Identifier: CA2642492202

Gene: AGRN

Linked Data

• gnomAD v4: 1-1048184-TCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048195_1048240del , CM000663.2:g.1048195_1048240del	GRCh38
NC_000001.10:g.983575_983620del , CM000663.1:g.983575_983620del	GRCh37
NC_000001.9:g.973438_973483del	NCBI36
NG_016346.1:g.33073_33118del , LRG_198:g.33073_33118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3935_3980del MANE Select	ENSP00000368678.2:p.Thr1312SerfsTer?
ENST00000651234.1:c.3620_3665del	ENSP00000499046.1:p.Thr1207SerfsTer?
ENST00000652369.1:c.3620_3665del	ENSP00000498543.1:p.Thr1207SerfsTer?
ENST00000379370.6:c.3935_3980del	ENSP00000368678.2:p.Thr1312SerfsTer?
ENST00000620552.4:c.3521_3566del	ENSP00000484607.1:p.Thr1174SerfsTer?
NM_001305275.1:c.3935_3980del	NP_001292204.1:p.Thr1312SerfsTer?
NM_198576.3:c.3935_3980del	NP_940978.2:p.Thr1312SerfsTer?
XM_005244749.2:c.3935_3980del	XP_005244806.1:p.Thr1312SerfsTer?
XM_006710635.2:c.3935_3980del	XP_006710698.1:p.Thr1312SerfsTer?
XM_011541429.1:c.3935_3980del	XP_011539731.1:p.Thr1312SerfsTer?
XM_011541430.1:c.3062_3107del	XP_011539732.1:p.Thr1021SerfsTer?
XM_011541431.1:c.2201_2246del	XP_011539733.1:p.Thr734SerfsTer?
XR_946650.1:n.4002_4047del
NM_001364727.1:c.3620_3665del	NP_001351656.1:p.Thr1207SerfsTer?
XM_005244749.3:c.3935_3980del	XP_005244806.1:p.Thr1312SerfsTer?
XM_011541429.2:c.3935_3980del	XP_011539731.1:p.Thr1312SerfsTer?
XR_946650.2:n.4006_4051del
NM_001305275.2:c.3935_3980del	NP_001292204.1:p.Thr1312SerfsTer?
NM_198576.4:c.3935_3980del MANE Select	NP_940978.2:p.Thr1312SerfsTer?
NM_001364727.2:c.3620_3665del	NP_001351656.1:p.Thr1207SerfsTer?