Canonical Allele Identifier: CA967260
Gene: AGL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370832
ClinVar RCV Id: RCV000412031

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99912479dup , CM000663.2:g.99912479dup GRCh38
NC_000001.9:g.100150623dup NCBI36
NC_000001.10:g.100378035dup , CM000663.1:g.100378035dup GRCh37
NG_012865.1:g.67396dup

Transcript Alleles

HGVS Amino-acid change
ENST00000294724.8:c.3911dup ENSP00000294724.4:p.Asn1304LysfsTer7
ENST00000361302.7:c.3863dup ENSP00000354971.3:p.Asn1288LysfsTer7
ENST00000361522.4:c.3860dup ENSP00000354635.4:p.Asn1287LysfsTer7
ENST00000361915.7:c.3911dup ENSP00000355106.3:p.Asn1304LysfsTer7
ENST00000370161.6:n.3863dup ENSP00000359180.2:p.Asn1288LysfsTer7
ENST00000370163.7:c.3911dup ENSP00000359182.3:p.Asn1304LysfsTer7
ENST00000370165.7:c.3911dup ENSP00000359184.3:p.Asn1304LysfsTer7
NM_000028.2:c.3911dup VV NP_000019.2:p.Asn1304LysfsTer7
NM_000642.2:c.3911dup VV NP_000633.2:p.Asn1304LysfsTer7
NM_000643.2:c.3911dup VV NP_000634.2:p.Asn1304LysfsTer7
NM_000644.2:c.3911dup VV NP_000635.2:p.Asn1304LysfsTer7
NM_000645.2:c.3860dup VV NP_000636.2:p.Asn1287LysfsTer7
NM_000646.2:c.3863dup VV NP_000637.2:p.Asn1288LysfsTer7
XM_005270557.1:c.3911dup XP_005270614.1:p.Asn1304LysfsTer7
XM_005270557.2:c.3911dup
XM_017000501.2:c.2171dup XP_016855990.1:p.Asn724LysfsTer7