Canonical Allele Identifier: CA966165

Gene: AGL

Linked Data

• ClinVar Variation Id: 2898760
• ClinVar RCV Id: RCV003634015
• dbSNP Id: rs762641745
• ExAC: 1:100327998 CT / C
• gnomAD v2: 1-100327998-CT-C
• gnomAD v4: 1-99862442-CT-C
• MyVariant Identifiers: chr1:g.100328002del (hg19) ; chr1:g.100327999del (hg19) ; chr1:g.99862446del (hg38) ; chr1:g.99862443del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99862447del , CM000663.2:g.99862447del	GRCh38
NC_000001.10:g.100328003del , CM000663.1:g.100328003del	GRCh37
NC_000001.9:g.100100591del	NCBI36
NG_012865.1:g.17364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.460+24del MANE Select	ENSP00000355106.3:n.460+24del
ENST00000637337.1:n.671+24del
ENST00000294724.8:c.460+24del	ENSP00000294724.4:n.460+24del
ENST00000361302.7:c.412+24del	ENSP00000354971.3:n.412+24del
ENST00000361522.4:c.409+24del	ENSP00000354635.4:n.409+24del
ENST00000361915.7:c.460+24del	ENSP00000355106.3:n.460+24del
ENST00000370161.6:c.412+24del	ENSP00000359180.2:n.412+24del
ENST00000370163.7:c.460+24del	ENSP00000359182.3:n.460+24del
ENST00000370165.7:c.460+24del	ENSP00000359184.3:n.460+24del
NM_000028.2:c.460+24del	NP_000019.2:n.460+24del
NM_000642.2:c.460+24del	NP_000633.2:n.460+24del
NM_000643.2:c.460+24del	NP_000634.2:n.460+24del
NM_000644.2:c.460+24del	NP_000635.2:n.460+24del
NM_000645.2:c.409+24del	NP_000636.2:n.409+24del
NM_000646.2:c.412+24del	NP_000637.2:n.412+24del
XM_005270557.1:c.460+24del	XP_005270614.1:n.460+24del
XM_005270557.2:c.460+24del	XP_005270614.1:n.460+24del
NM_000642.3:c.460+24del MANE Select	NP_000633.2:n.460+24del