Canonical Allele Identifier: CA1183924523

Gene: AGL

Linked Data

• ClinVar Variation Id: 2779985
• ClinVar RCV Id: RCV003633783
• dbSNP Id: rs1650122493

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99862399dup , CM000663.2:g.99862399dup	GRCh38
NC_000001.10:g.100327955dup , CM000663.1:g.100327955dup	GRCh37
NC_000001.9:g.100100543dup	NCBI36
NG_012865.1:g.17316dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.436dup MANE Select	ENSP00000355106.3:p.Arg146LysfsTer3
ENST00000637337.1:n.647dup
ENST00000294724.8:c.436dup	ENSP00000294724.4:p.Arg146LysfsTer3
ENST00000361302.7:c.388dup	ENSP00000354971.3:p.Arg130LysfsTer3
ENST00000361522.4:c.385dup	ENSP00000354635.4:p.Arg129LysfsTer3
ENST00000361915.7:c.436dup	ENSP00000355106.3:p.Arg146LysfsTer3
ENST00000370161.6:c.388dup	ENSP00000359180.2:p.Arg130LysfsTer3
ENST00000370163.7:c.436dup	ENSP00000359182.3:p.Arg146LysfsTer3
ENST00000370165.7:c.436dup	ENSP00000359184.3:p.Arg146LysfsTer3
NM_000028.2:c.436dup	NP_000019.2:p.Arg146LysfsTer3
NM_000642.2:c.436dup	NP_000633.2:p.Arg146LysfsTer3
NM_000643.2:c.436dup	NP_000634.2:p.Arg146LysfsTer3
NM_000644.2:c.436dup	NP_000635.2:p.Arg146LysfsTer3
NM_000645.2:c.385dup	NP_000636.2:p.Arg129LysfsTer3
NM_000646.2:c.388dup	NP_000637.2:p.Arg130LysfsTer3
XM_005270557.1:c.436dup	XP_005270614.1:p.Arg146LysfsTer3
XM_005270557.2:c.436dup	XP_005270614.1:p.Arg146LysfsTer3
NM_000642.3:c.436dup MANE Select	NP_000633.2:p.Arg146LysfsTer3