Canonical Allele Identifier: CA2573132736

Gene: AGL

Linked Data

• ClinVar Variation Id: 1685508
• ClinVar RCV Id: RCV002249235
• dbSNP Id: rs2101053661

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851116_99851117del , CM000663.2:g.99851116_99851117del	GRCh38
NC_000001.10:g.100316672_100316673del , CM000663.1:g.100316672_100316673del	GRCh37
NC_000001.9:g.100089260_100089261del	NCBI36
NG_012865.1:g.6033_6034del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.74_75del MANE Select	ENSP00000355106.3:p.Leu25ArgfsTer5
ENST00000294724.8:c.74_75del	ENSP00000294724.4:p.Leu25ArgfsTer5
ENST00000361302.7:c.-118_-117del	ENSP00000354971.3:n.-118_-117del
ENST00000361915.7:c.74_75del	ENSP00000355106.3:p.Leu25ArgfsTer5
ENST00000370163.7:c.74_75del	ENSP00000359182.3:p.Leu25ArgfsTer5
ENST00000370165.7:c.74_75del	ENSP00000359184.3:p.Leu25ArgfsTer5
NM_000028.2:c.74_75del	NP_000019.2:p.Leu25ArgfsTer5
NM_000642.2:c.74_75del	NP_000633.2:p.Leu25ArgfsTer5
NM_000643.2:c.74_75del	NP_000634.2:p.Leu25ArgfsTer5
NM_000644.2:c.74_75del	NP_000635.2:p.Leu25ArgfsTer5
NM_000646.2:c.-118_-117del	NP_000637.2:n.-118_-117del
XM_005270557.1:c.74_75del	XP_005270614.1:p.Leu25ArgfsTer5
XM_005270557.2:c.74_75del	XP_005270614.1:p.Leu25ArgfsTer5
NM_000642.3:c.74_75del MANE Select	NP_000633.2:p.Leu25ArgfsTer5