Canonical Allele Identifier: CA16040845
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 371112
ClinVar RCV Id: RCV000410845
dbSNP Id: rs1057517017
MyVariant Identifiers: chr1:g.100376374dupT (hg19) chr1:g.99910818dupT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99910818dup , CM000663.2:g.99910818dup GRCh38
NC_000001.10:g.100376374dup , CM000663.1:g.100376374dup GRCh37
NC_000001.9:g.100148962dup NCBI36
NG_012865.1:g.65735dup

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.3807dup MANE Select ENSP00000355106.3:p.Arg1270Ter
ENST00000637337.1:n.4018dup
ENST00000294724.8:c.3807dup ENSP00000294724.4:p.Arg1270Ter
ENST00000361302.7:c.3759dup ENSP00000354971.3:p.Arg1254Ter
ENST00000361522.4:c.3756dup ENSP00000354635.4:p.Arg1253Ter
ENST00000361915.7:c.3807dup ENSP00000355106.3:p.Arg1270Ter
ENST00000370161.6:c.3759dup ENSP00000359180.2:p.Arg1254Ter
ENST00000370163.7:c.3807dup ENSP00000359182.3:p.Arg1270Ter
ENST00000370165.7:c.3807dup ENSP00000359184.3:p.Arg1270Ter
NM_000028.2:c.3807dup NP_000019.2:p.Arg1270Ter
NM_000642.2:c.3807dup NP_000633.2:p.Arg1270Ter
NM_000643.2:c.3807dup NP_000634.2:p.Arg1270Ter
NM_000644.2:c.3807dup NP_000635.2:p.Arg1270Ter
NM_000645.2:c.3756dup NP_000636.2:p.Arg1253Ter
NM_000646.2:c.3759dup NP_000637.2:p.Arg1254Ter
XM_005270557.1:c.3807dup XP_005270614.1:p.Arg1270Ter
XM_005270557.2:c.3807dup XP_005270614.1:p.Arg1270Ter
XM_017000501.2:c.2067dup XP_016855990.1:p.Arg690Ter
NM_000642.3:c.3807dup MANE Select NP_000633.2:p.Arg1270Ter
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