Canonical Allele Identifier: CA16040826
Gene: AGL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370318
ClinVar RCV Id: RCV000412473
dbSNP Id: rs1057516397

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99862405del , CM000663.2:g.99862405del GRCh38
NC_000001.10:g.100327961del , CM000663.1:g.100327961del GRCh37
NC_000001.9:g.100100549del NCBI36
NG_012865.1:g.17322del

Transcript Alleles

HGVS Amino-acid change
NM_000028.2:c.442del VV NP_000019.2:p.Arg148GlyfsTer10
NM_000642.2:c.442del VV NP_000633.2:p.Arg148GlyfsTer10
NM_000643.2:c.442del VV NP_000634.2:p.Arg148GlyfsTer10
NM_000644.2:c.442del VV NP_000635.2:p.Arg148GlyfsTer10
NM_000645.2:c.391del VV NP_000636.2:p.Arg131GlyfsTer10
NM_000646.2:c.394del VV NP_000637.2:p.Arg132GlyfsTer10
XM_005270557.1:c.442del XP_005270614.1:p.Arg148GlyfsTer10
XM_005270557.2:c.442del
ENST00000294724.8:c.442del ENSP00000294724.4:p.Arg148GlyfsTer10
ENST00000361302.7:c.394del ENSP00000354971.3:p.Arg132GlyfsTer10
ENST00000361522.4:c.391del ENSP00000354635.4:p.Arg131GlyfsTer10
ENST00000361915.7:c.442del ENSP00000355106.3:p.Arg148GlyfsTer10
ENST00000370161.6:n.394del ENSP00000359180.2:p.Arg132GlyfsTer10
ENST00000370163.7:c.442del ENSP00000359182.3:p.Arg148GlyfsTer10
ENST00000370165.7:c.442del ENSP00000359184.3:p.Arg148GlyfsTer10