Canonical Allele Identifier: CA524878373

Gene: AGL

Linked Data

• ClinVar Variation Id: 1452534
• ClinVar RCV Id: RCV002037681
• dbSNP Id: rs1406033695
• gnomAD v2: 1-100327935-CT-C
• gnomAD v4: 1-99862379-CT-C
• MyVariant Identifiers: chr1:g.100327936del (hg19) ; chr1:g.99862380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99862383del , CM000663.2:g.99862383del	GRCh38
NC_000001.10:g.100327939del , CM000663.1:g.100327939del	GRCh37
NC_000001.9:g.100100527del	NCBI36
NG_012865.1:g.17300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.420del MANE Select	ENSP00000355106.3:p.Phe140LeufsTer18
ENST00000637337.1:n.631del
ENST00000294724.8:c.420del	ENSP00000294724.4:p.Phe140LeufsTer18
ENST00000361302.7:c.372del	ENSP00000354971.3:p.Phe124LeufsTer18
ENST00000361522.4:c.369del	ENSP00000354635.4:p.Phe123LeufsTer18
ENST00000361915.7:c.420del	ENSP00000355106.3:p.Phe140LeufsTer18
ENST00000370161.6:c.372del	ENSP00000359180.2:p.Phe124LeufsTer18
ENST00000370163.7:c.420del	ENSP00000359182.3:p.Phe140LeufsTer18
ENST00000370165.7:c.420del	ENSP00000359184.3:p.Phe140LeufsTer18
NM_000028.2:c.420del	NP_000019.2:p.Phe140LeufsTer18
NM_000642.2:c.420del	NP_000633.2:p.Phe140LeufsTer18
NM_000643.2:c.420del	NP_000634.2:p.Phe140LeufsTer18
NM_000644.2:c.420del	NP_000635.2:p.Phe140LeufsTer18
NM_000645.2:c.369del	NP_000636.2:p.Phe123LeufsTer18
NM_000646.2:c.372del	NP_000637.2:p.Phe124LeufsTer18
XM_005270557.1:c.420del	XP_005270614.1:p.Phe140LeufsTer18
XM_005270557.2:c.420del	XP_005270614.1:p.Phe140LeufsTer18
NM_000642.3:c.420del MANE Select	NP_000633.2:p.Phe140LeufsTer18