Canonical Allele Identifier: CA16040834
Gene: AGL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370658
ClinVar RCV Id: RCV000410044
dbSNP Id: rs1057516666

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99881301_99881302del , CM000663.2:g.99881301_99881302del GRCh38
NC_000001.10:g.100346857_100346858del , CM000663.1:g.100346857_100346858del GRCh37
NC_000001.9:g.100119445_100119446del NCBI36
NG_012865.1:g.36218_36219del

Transcript Alleles

HGVS Amino-acid change
NM_000028.2:c.2011_2012del VV NP_000019.2:p.Val671PhefsTer2
NM_000642.2:c.2011_2012del VV NP_000633.2:p.Val671PhefsTer2
NM_000643.2:c.2011_2012del VV NP_000634.2:p.Val671PhefsTer2
NM_000644.2:c.2011_2012del VV NP_000635.2:p.Val671PhefsTer2
NM_000645.2:c.1960_1961del VV NP_000636.2:p.Val654PhefsTer2
NM_000646.2:c.1963_1964del VV NP_000637.2:p.Val655PhefsTer2
XM_005270557.1:c.2011_2012del XP_005270614.1:p.Val671PhefsTer2
XM_005270557.2:c.2011_2012del
XM_017000501.2:c.271_272del XP_016855990.1:p.Val91PhefsTer2
ENST00000294724.8:c.2011_2012del ENSP00000294724.4:p.Val671PhefsTer2
ENST00000361302.7:c.1963_1964del ENSP00000354971.3:p.Val655PhefsTer2
ENST00000361522.4:c.1960_1961del ENSP00000354635.4:p.Val654PhefsTer2
ENST00000361915.7:c.2011_2012del ENSP00000355106.3:p.Val671PhefsTer2
ENST00000370161.6:n.1963_1964del ENSP00000359180.2:p.Val655PhefsTer2
ENST00000370163.7:c.2011_2012del ENSP00000359182.3:p.Val671PhefsTer2
ENST00000370165.7:c.2011_2012del ENSP00000359184.3:p.Val671PhefsTer2