Canonical Allele Identifier: CA2646734667

Gene: AGL

Linked Data

• ClinVar Variation Id: 2756994
• ClinVar RCV Id: RCV003517031
• gnomAD v4: 1-99870599-A-AGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870600_99870601dup , CM000663.2:g.99870600_99870601dup	GRCh38
NC_000001.10:g.100336156_100336157dup , CM000663.1:g.100336156_100336157dup	GRCh37
NC_000001.9:g.100108744_100108745dup	NCBI36
NG_012865.1:g.25517_25518dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.846+19_846+20dup MANE Select	ENSP00000355106.3:n.846+19_846+20dup
ENST00000637337.1:n.1057+19_1057+20dup
ENST00000294724.8:c.846+19_846+20dup	ENSP00000294724.4:n.846+19_846+20dup
ENST00000361302.7:c.798+19_798+20dup	ENSP00000354971.3:n.798+19_798+20dup
ENST00000361522.4:c.795+19_795+20dup	ENSP00000354635.4:n.795+19_795+20dup
ENST00000361915.7:c.846+19_846+20dup	ENSP00000355106.3:n.846+19_846+20dup
ENST00000370161.6:c.798+19_798+20dup	ENSP00000359180.2:n.798+19_798+20dup
ENST00000370163.7:c.846+19_846+20dup	ENSP00000359182.3:n.846+19_846+20dup
ENST00000370165.7:c.846+19_846+20dup	ENSP00000359184.3:n.846+19_846+20dup
NM_000028.2:c.846+19_846+20dup	NP_000019.2:n.846+19_846+20dup
NM_000642.2:c.846+19_846+20dup	NP_000633.2:n.846+19_846+20dup
NM_000643.2:c.846+19_846+20dup	NP_000634.2:n.846+19_846+20dup
NM_000644.2:c.846+19_846+20dup	NP_000635.2:n.846+19_846+20dup
NM_000645.2:c.795+19_795+20dup	NP_000636.2:n.795+19_795+20dup
NM_000646.2:c.798+19_798+20dup	NP_000637.2:n.798+19_798+20dup
XM_005270557.1:c.846+19_846+20dup	XP_005270614.1:n.846+19_846+20dup
XM_005270557.2:c.846+19_846+20dup	XP_005270614.1:n.846+19_846+20dup
NM_000642.3:c.846+19_846+20dup MANE Select	NP_000633.2:n.846+19_846+20dup