Canonical Allele Identifier: CA658821093

Gene: AGL

Linked Data

• ClinVar Variation Id: 556310
• ClinVar RCV Id: RCV000672303
• dbSNP Id: rs1553183148
• MyVariant Identifiers: chr1:g.99861504del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99861504del , CM000663.2:g.99861504del	GRCh38
NC_000001.10:g.100327060del , CM000663.1:g.100327060del	GRCh37
NC_000001.9:g.100099648del	NCBI36
NG_012865.1:g.16421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.84del
ENST00000637337.1:n.295del
ENST00000294724.8:c.84del
ENST00000361302.7:c.36del
ENST00000361522.4:c.33del	ENSP00000354635.4:p.Tyr12MetfsTer7
ENST00000361915.7:c.84del
ENST00000370161.6:c.36del
ENST00000370163.7:c.84del
ENST00000370165.7:c.84del
NM_000028.2:c.84del
NM_000642.2:c.84del
NM_000643.2:c.84del
NM_000644.2:c.84del
NM_000645.2:c.33del	NP_000636.2:p.Tyr12MetfsTer7
NM_000646.2:c.36del
XM_005270557.1:c.84del
XM_005270557.2:c.84del
NM_000642.3:c.84del