Canonical Allele Identifier: CA2499214926

Gene: AGL

Linked Data

• ClinVar Variation Id: 1075182
• ClinVar RCV Id: RCV001388706
• dbSNP Id: rs2100849117

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99910767dup , CM000663.2:g.99910767dup	GRCh38
NC_000001.10:g.100376323dup , CM000663.1:g.100376323dup	GRCh37
NC_000001.9:g.100148911dup	NCBI36
NG_012865.1:g.65684dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3756dup MANE Select	ENSP00000355106.3:p.Arg1253SerfsTer10
ENST00000637337.1:n.3967dup
ENST00000294724.8:c.3756dup	ENSP00000294724.4:p.Arg1253SerfsTer10
ENST00000361302.7:c.3708dup	ENSP00000354971.3:p.Arg1237SerfsTer10
ENST00000361522.4:c.3705dup	ENSP00000354635.4:p.Arg1236SerfsTer10
ENST00000361915.7:c.3756dup	ENSP00000355106.3:p.Arg1253SerfsTer10
ENST00000370161.6:c.3708dup	ENSP00000359180.2:p.Arg1237SerfsTer10
ENST00000370163.7:c.3756dup	ENSP00000359182.3:p.Arg1253SerfsTer10
ENST00000370165.7:c.3756dup	ENSP00000359184.3:p.Arg1253SerfsTer10
NM_000028.2:c.3756dup	NP_000019.2:p.Arg1253SerfsTer10
NM_000642.2:c.3756dup	NP_000633.2:p.Arg1253SerfsTer10
NM_000643.2:c.3756dup	NP_000634.2:p.Arg1253SerfsTer10
NM_000644.2:c.3756dup	NP_000635.2:p.Arg1253SerfsTer10
NM_000645.2:c.3705dup	NP_000636.2:p.Arg1236SerfsTer10
NM_000646.2:c.3708dup	NP_000637.2:p.Arg1237SerfsTer10
XM_005270557.1:c.3756dup	XP_005270614.1:p.Arg1253SerfsTer10
XM_005270557.2:c.3756dup	XP_005270614.1:p.Arg1253SerfsTer10
XM_017000501.2:c.2016dup	XP_016855990.1:p.Arg673SerfsTer10
NM_000642.3:c.3756dup MANE Select	NP_000633.2:p.Arg1253SerfsTer10