Canonical Allele Identifier: CA16040831
Gene: AGL HGNC NCBI

Linked Data

dbSNP Id: rs1057516570
MyVariant Identifiers: chr1:g.100343370_100343371del (hg19) chr1:g.99877814_99877815del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99877814_99877815del , CM000663.2:g.99877814_99877815del GRCh38
NC_000001.10:g.100343370_100343371del , CM000663.1:g.100343370_100343371del GRCh37
NC_000001.9:g.100115958_100115959del NCBI36
NG_012865.1:g.32731_32732del

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.1597_1598del MANE Select ENSP00000355106.3:p.Leu533SerfsTer4
ENST00000637337.1:n.1808_1809del
ENST00000294724.8:c.1597_1598del ENSP00000294724.4:p.Leu533SerfsTer4
ENST00000361302.7:c.1549_1550del ENSP00000354971.3:p.Leu517SerfsTer4
ENST00000361522.4:c.1546_1547del ENSP00000354635.4:p.Leu516SerfsTer4
ENST00000361915.7:c.1597_1598del ENSP00000355106.3:p.Leu533SerfsTer4
ENST00000370161.6:c.1549_1550del ENSP00000359180.2:p.Leu517SerfsTer4
ENST00000370163.7:c.1597_1598del ENSP00000359182.3:p.Leu533SerfsTer4
ENST00000370165.7:c.1597_1598del ENSP00000359184.3:p.Leu533SerfsTer4
NM_000028.2:c.1597_1598del NP_000019.2:p.Leu533SerfsTer4
NM_000642.2:c.1597_1598del NP_000633.2:p.Leu533SerfsTer4
NM_000643.2:c.1597_1598del NP_000634.2:p.Leu533SerfsTer4
NM_000644.2:c.1597_1598del NP_000635.2:p.Leu533SerfsTer4
NM_000645.2:c.1546_1547del NP_000636.2:p.Leu516SerfsTer4
NM_000646.2:c.1549_1550del NP_000637.2:p.Leu517SerfsTer4
XM_005270557.1:c.1597_1598del XP_005270614.1:p.Leu533SerfsTer4
XM_005270557.2:c.1597_1598del XP_005270614.1:p.Leu533SerfsTer4
XM_017000501.2:c.-20_-19del XP_016855990.1:n.-20_-19del
NM_000642.3:c.1597_1598del MANE Select NP_000633.2:p.Leu533SerfsTer4
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