Canonical Allele Identifier: CA2573132633

Gene: AGL

Linked Data

• ClinVar Variation Id: 1367884
• ClinVar RCV Id: RCV001932596
• dbSNP Id: rs2100876312

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99916669dup , CM000663.2:g.99916669dup	GRCh38
NC_000001.10:g.100382225dup , CM000663.1:g.100382225dup	GRCh37
NC_000001.9:g.100154813dup	NCBI36
NG_012865.1:g.71586dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4419dup MANE Select	ENSP00000355106.3:p.Thr1474TyrfsTer9
ENST00000637337.1:n.4630dup
ENST00000294724.8:c.4419dup	ENSP00000294724.4:p.Thr1474TyrfsTer9
ENST00000361302.7:c.4371dup	ENSP00000354971.3:p.Thr1458TyrfsTer9
ENST00000361522.4:c.4368dup	ENSP00000354635.4:p.Thr1457TyrfsTer9
ENST00000361915.7:c.4419dup	ENSP00000355106.3:p.Thr1474TyrfsTer9
ENST00000370161.6:c.4371dup	ENSP00000359180.2:p.Thr1458TyrfsTer9
ENST00000370163.7:c.4419dup	ENSP00000359182.3:p.Thr1474TyrfsTer9
ENST00000370165.7:c.4419dup	ENSP00000359184.3:p.Thr1474TyrfsTer9
NM_000028.2:c.4419dup	NP_000019.2:p.Thr1474TyrfsTer9
NM_000642.2:c.4419dup	NP_000633.2:p.Thr1474TyrfsTer9
NM_000643.2:c.4419dup	NP_000634.2:p.Thr1474TyrfsTer9
NM_000644.2:c.4419dup	NP_000635.2:p.Thr1474TyrfsTer9
NM_000645.2:c.4368dup	NP_000636.2:p.Thr1457TyrfsTer9
NM_000646.2:c.4371dup	NP_000637.2:p.Thr1458TyrfsTer9
XM_005270557.1:c.4419dup	XP_005270614.1:p.Thr1474TyrfsTer9
XR_947626.1:n.1318-3452dup
XR_947627.1:n.1207-3452dup
XR_947628.1:n.1312-3452dup
XR_947630.1:n.1250-3452dup
XR_947632.1:n.1136-3452dup
XR_947633.1:n.1247-3452dup
XR_947634.1:n.661-3452dup
XR_947635.1:n.729-3452dup
XM_005270557.2:c.4419dup	XP_005270614.1:p.Thr1474TyrfsTer9
XM_017000501.2:c.2679dup	XP_016855990.1:p.Thr894TyrfsTer9
NM_000642.3:c.4419dup MANE Select	NP_000633.2:p.Thr1474TyrfsTer9