Canonical Allele Identifier: CA16040825
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 371529
ClinVar RCV Id: RCV000410655
dbSNP Id: rs1057517344
MyVariant Identifiers: chr1:g.100327956del (hg19) chr1:g.99862400del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99862400del , CM000663.2:g.99862400del GRCh38
NC_000001.10:g.100327956del , CM000663.1:g.100327956del GRCh37
NC_000001.9:g.100100544del NCBI36
NG_012865.1:g.17317del

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.437del MANE Select ENSP00000355106.3:p.Arg146AsnfsTer12
ENST00000637337.1:n.648del
ENST00000294724.8:c.437del ENSP00000294724.4:p.Arg146AsnfsTer12
ENST00000361302.7:c.389del ENSP00000354971.3:p.Arg130AsnfsTer12
ENST00000361522.4:c.386del ENSP00000354635.4:p.Arg129AsnfsTer12
ENST00000361915.7:c.437del ENSP00000355106.3:p.Arg146AsnfsTer12
ENST00000370161.6:c.389del ENSP00000359180.2:p.Arg130AsnfsTer12
ENST00000370163.7:c.437del ENSP00000359182.3:p.Arg146AsnfsTer12
ENST00000370165.7:c.437del ENSP00000359184.3:p.Arg146AsnfsTer12
NM_000028.2:c.437del NP_000019.2:p.Arg146AsnfsTer12
NM_000642.2:c.437del NP_000633.2:p.Arg146AsnfsTer12
NM_000643.2:c.437del NP_000634.2:p.Arg146AsnfsTer12
NM_000644.2:c.437del NP_000635.2:p.Arg146AsnfsTer12
NM_000645.2:c.386del NP_000636.2:p.Arg129AsnfsTer12
NM_000646.2:c.389del NP_000637.2:p.Arg130AsnfsTer12
XM_005270557.1:c.437del XP_005270614.1:p.Arg146AsnfsTer12
XM_005270557.2:c.437del XP_005270614.1:p.Arg146AsnfsTer12
NM_000642.3:c.437del MANE Select NP_000633.2:p.Arg146AsnfsTer12
Search 100 bp 5'
Search 100 bp 3'