Canonical Allele Identifier: CA16040837
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 371074
ClinVar RCV Id: RCV000412255
dbSNP Id: rs1057516984
MyVariant Identifiers: chr1:g.100349999dupT (hg19) chr1:g.99884443dupT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99884443dup , CM000663.2:g.99884443dup GRCh38
NC_000001.10:g.100349999dup , CM000663.1:g.100349999dup GRCh37
NC_000001.9:g.100122587dup NCBI36
NG_012865.1:g.39360dup

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.2538dup MANE Select ENSP00000355106.3:p.Ile847TyrfsTer5
ENST00000637337.1:n.2749dup
ENST00000294724.8:c.2538dup ENSP00000294724.4:p.Ile847TyrfsTer5
ENST00000361302.7:c.2490dup ENSP00000354971.3:p.Ile831TyrfsTer5
ENST00000361522.4:c.2487dup ENSP00000354635.4:p.Ile830TyrfsTer5
ENST00000361915.7:c.2538dup ENSP00000355106.3:p.Ile847TyrfsTer5
ENST00000370161.6:c.2490dup ENSP00000359180.2:p.Ile831TyrfsTer5
ENST00000370163.7:c.2538dup ENSP00000359182.3:p.Ile847TyrfsTer5
ENST00000370165.7:c.2538dup ENSP00000359184.3:p.Ile847TyrfsTer5
NM_000028.2:c.2538dup NP_000019.2:p.Ile847TyrfsTer5
NM_000642.2:c.2538dup NP_000633.2:p.Ile847TyrfsTer5
NM_000643.2:c.2538dup NP_000634.2:p.Ile847TyrfsTer5
NM_000644.2:c.2538dup NP_000635.2:p.Ile847TyrfsTer5
NM_000645.2:c.2487dup NP_000636.2:p.Ile830TyrfsTer5
NM_000646.2:c.2490dup NP_000637.2:p.Ile831TyrfsTer5
XM_005270557.1:c.2538dup XP_005270614.1:p.Ile847TyrfsTer5
XM_005270557.2:c.2538dup XP_005270614.1:p.Ile847TyrfsTer5
XM_017000501.2:c.798dup XP_016855990.1:p.Ile267TyrfsTer5
NM_000642.3:c.2538dup MANE Select NP_000633.2:p.Ile847TyrfsTer5
Search 100 bp 5'
Search 100 bp 3'