Canonical Allele Identifier: CA16040830
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 370980
ClinVar RCV Id: RCV000411414
dbSNP Id: rs1057516913
MyVariant Identifiers: chr1:g.100342130del (hg19) chr1:g.99876574del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99876574del , CM000663.2:g.99876574del GRCh38
NC_000001.10:g.100342130del , CM000663.1:g.100342130del GRCh37
NC_000001.9:g.100114718del NCBI36
NG_012865.1:g.31491del

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.1400del MANE Select ENSP00000355106.3:p.Pro467LeufsTer14
ENST00000637337.1:n.1611del
ENST00000294724.8:c.1400del ENSP00000294724.4:p.Pro467LeufsTer14
ENST00000361302.7:c.1352del ENSP00000354971.3:p.Pro451LeufsTer14
ENST00000361522.4:c.1349del ENSP00000354635.4:p.Pro450LeufsTer14
ENST00000361915.7:c.1400del ENSP00000355106.3:p.Pro467LeufsTer14
ENST00000370161.6:c.1352del ENSP00000359180.2:p.Pro451LeufsTer14
ENST00000370163.7:c.1400del ENSP00000359182.3:p.Pro467LeufsTer14
ENST00000370165.7:c.1400del ENSP00000359184.3:p.Pro467LeufsTer14
ENST00000477753.1:n.659del
NM_000028.2:c.1400del NP_000019.2:p.Pro467LeufsTer14
NM_000642.2:c.1400del NP_000633.2:p.Pro467LeufsTer14
NM_000643.2:c.1400del NP_000634.2:p.Pro467LeufsTer14
NM_000644.2:c.1400del NP_000635.2:p.Pro467LeufsTer14
NM_000645.2:c.1349del NP_000636.2:p.Pro450LeufsTer14
NM_000646.2:c.1352del NP_000637.2:p.Pro451LeufsTer14
XM_005270557.1:c.1400del XP_005270614.1:p.Pro467LeufsTer14
XM_005270557.2:c.1400del XP_005270614.1:p.Pro467LeufsTer14
NM_000642.3:c.1400del MANE Select NP_000633.2:p.Pro467LeufsTer14
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