Canonical Allele Identifier: CA2580063354

Gene: AGL

Linked Data

• ClinVar Variation Id: 1724843
• ClinVar RCV Id: RCV002307902

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99862300_99862301del , CM000663.2:g.99862300_99862301del	GRCh38
NC_000001.10:g.100327856_100327857del , CM000663.1:g.100327856_100327857del	GRCh37
NC_000001.9:g.100100444_100100445del	NCBI36
NG_012865.1:g.17217_17218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.337_338del MANE Select	ENSP00000355106.3:p.Leu113ThrfsTer5
ENST00000637337.1:n.548_549del
ENST00000294724.8:c.337_338del	ENSP00000294724.4:p.Leu113ThrfsTer5
ENST00000361302.7:c.289_290del	ENSP00000354971.3:p.Leu97ThrfsTer5
ENST00000361522.4:c.286_287del	ENSP00000354635.4:p.Leu96ThrfsTer5
ENST00000361915.7:c.337_338del	ENSP00000355106.3:p.Leu113ThrfsTer5
ENST00000370161.6:c.289_290del	ENSP00000359180.2:p.Leu97ThrfsTer5
ENST00000370163.7:c.337_338del	ENSP00000359182.3:p.Leu113ThrfsTer5
ENST00000370165.7:c.337_338del	ENSP00000359184.3:p.Leu113ThrfsTer5
NM_000028.2:c.337_338del	NP_000019.2:p.Leu113ThrfsTer5
NM_000642.2:c.337_338del	NP_000633.2:p.Leu113ThrfsTer5
NM_000643.2:c.337_338del	NP_000634.2:p.Leu113ThrfsTer5
NM_000644.2:c.337_338del	NP_000635.2:p.Leu113ThrfsTer5
NM_000645.2:c.286_287del	NP_000636.2:p.Leu96ThrfsTer5
NM_000646.2:c.289_290del	NP_000637.2:p.Leu97ThrfsTer5
XM_005270557.1:c.337_338del	XP_005270614.1:p.Leu113ThrfsTer5
XM_005270557.2:c.337_338del	XP_005270614.1:p.Leu113ThrfsTer5
NM_000642.3:c.337_338del MANE Select	NP_000633.2:p.Leu113ThrfsTer5