Canonical Allele Identifier: CA16040821
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 371533
ClinVar RCV Id: RCV000409607
dbSNP Id: rs1057517347
MyVariant Identifiers: chr1:g.100327116dupA (hg19) chr1:g.99861560dupA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99861560dup , CM000663.2:g.99861560dup GRCh38
NC_000001.10:g.100327116dup , CM000663.1:g.100327116dup GRCh37
NC_000001.9:g.100099704dup NCBI36
NG_012865.1:g.16477dup

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.140dup MANE Select ENSP00000355106.3:p.Tyr47Ter
ENST00000637337.1:n.351dup
ENST00000294724.8:c.140dup ENSP00000294724.4:p.Tyr47Ter
ENST00000361302.7:c.92dup ENSP00000354971.3:p.Tyr31Ter
ENST00000361522.4:c.89dup ENSP00000354635.4:p.Tyr30Ter
ENST00000361915.7:c.140dup ENSP00000355106.3:p.Tyr47Ter
ENST00000370161.6:c.92dup ENSP00000359180.2:p.Tyr31Ter
ENST00000370163.7:c.140dup ENSP00000359182.3:p.Tyr47Ter
ENST00000370165.7:c.140dup ENSP00000359184.3:p.Tyr47Ter
NM_000028.2:c.140dup NP_000019.2:p.Tyr47Ter
NM_000642.2:c.140dup NP_000633.2:p.Tyr47Ter
NM_000643.2:c.140dup NP_000634.2:p.Tyr47Ter
NM_000644.2:c.140dup NP_000635.2:p.Tyr47Ter
NM_000645.2:c.89dup NP_000636.2:p.Tyr30Ter
NM_000646.2:c.92dup NP_000637.2:p.Tyr31Ter
XM_005270557.1:c.140dup XP_005270614.1:p.Tyr47Ter
XM_005270557.2:c.140dup XP_005270614.1:p.Tyr47Ter
NM_000642.3:c.140dup MANE Select NP_000633.2:p.Tyr47Ter
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