Canonical Allele Identifier: CA2822990423
Gene: ALG13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.111685111del , CM000685.2:g.111685111del GRCh38
NC_000023.10:g.110928339del , CM000685.1:g.110928339del GRCh37
NC_000023.9:g.110814995del NCBI36
NG_016238.1:g.8994del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623622.2:c.383+8del ENSP00000485624.2:n.383+8del
ENST00000699748.1:c.*352+8del ENSP00000514558.1:n.*352+8del
ENST00000394780.8:c.383+8del MANE Select ENSP00000378260.3:n.383+8del
ENST00000636363.1:c.383+8del ENSP00000490681.1:n.383+8del
ENST00000251943.8:c.71+8del ENSP00000251943.4:n.71+8del
ENST00000371979.7:c.383+8del ENSP00000361047.3:n.383+8del
ENST00000394780.7:c.383+8del ENSP00000378260.3:n.383+8del
ENST00000436609.5:c.71+8del ENSP00000392990.2:n.71+8del
ENST00000468657.5:c.*352+8del ENSP00000480638.2:n.*352+8del
ENST00000470971.5:c.*147+8del ENSP00000479424.2:n.*147+8del
ENST00000471924.5:c.460+8del ENSP00000484523.2:n.460+8del
ENST00000473389.5:c.383+8del ENSP00000480711.1:n.383+8del
ENST00000482374.5:c.*248+8del ENSP00000479632.1:n.*248+8del
ENST00000482742.5:c.71+8del ENSP00000477513.1:n.71+8del
ENST00000486353.5:c.383+8del ENSP00000426892.2:n.383+8del
ENST00000487141.5:c.419+8del ENSP00000478130.1:n.419+8del
ENST00000489033.5:c.*293+8del ENSP00000482257.2:n.*293+8del
ENST00000492038.5:c.*147+8del ENSP00000479483.1:n.*147+8del
ENST00000495283.5:c.*248+8del ENSP00000427093.3:n.*248+8del
ENST00000610588.4:c.149+8del ENSP00000479731.1:n.149+8del
ENST00000621367.4:c.71+8del ENSP00000481509.1:n.71+8del
ENST00000622986.3:c.391del ENSP00000485067.1:p.Arg131GlufsTer10
ENST00000622997.3:c.*352+8del ENSP00000485420.1:n.*352+8del
ENST00000623144.3:c.*352+8del ENSP00000485279.1:n.*352+8del
ENST00000623148.3:c.401+8del ENSP00000485658.1:n.401+8del
ENST00000623189.1:c.71+8del ENSP00000485392.1:n.71+8del
ENST00000623255.1:c.374+8del ENSP00000485333.1:n.374+8del
ENST00000624161.3:c.*147+8del ENSP00000485181.1:n.*147+8del
ENST00000624881.3:c.324+8del ENSP00000485093.1:n.324+8del
NM_001039210.3:c.324+8del NP_001034299.3:n.324+8del
NM_001099922.2:c.383+8del NP_001093392.1:n.383+8del
NM_001168385.1:c.383+8del NP_001161857.1:n.383+8del
NM_001257230.1:c.71+8del NP_001244159.1:n.71+8del
NM_001257231.1:c.149+8del NP_001244160.1:n.149+8del
NM_001257234.1:c.71+8del NP_001244163.1:n.71+8del
NM_001257235.1:c.71+8del NP_001244164.1:n.71+8del
NM_001257237.1:c.71+8del NP_001244166.1:n.71+8del
NM_001257239.1:c.71+8del NP_001244168.1:n.71+8del
NM_001257240.1:c.71+8del NP_001244169.1:n.71+8del
NM_001257241.1:c.149+8del NP_001244170.1:n.149+8del
NM_018466.4:c.383+8del NP_060936.1:n.383+8del
NR_033125.1:n.380+8del
XM_005262191.3:c.71+8del XP_005262248.1:n.71+8del
XM_006724693.2:c.383+8del XP_006724756.1:n.383+8del
XM_006724695.2:c.383+8del XP_006724758.1:n.383+8del
XM_006724697.2:c.71+8del XP_006724760.2:n.71+8del
XM_006724698.2:c.71+8del XP_006724761.2:n.71+8del
XM_011531028.1:c.383+8del XP_011529330.1:n.383+8del
XM_011531029.1:c.383+8del XP_011529331.1:n.383+8del
XM_011531030.1:c.383+8del XP_011529332.1:n.383+8del
XM_011531031.1:c.71+8del XP_011529333.1:n.71+8del
XM_011531032.1:c.71+8del XP_011529334.1:n.71+8del
XM_011531033.1:c.71+8del XP_011529335.1:n.71+8del
XR_938409.1:n.856+8del
NM_001039210.4:c.324+8del NP_001034299.3:n.324+8del
NM_001168385.2:c.383+8del NP_001161857.1:n.383+8del
NM_001257235.2:c.71+8del NP_001244164.1:n.71+8del
NM_001257239.2:c.71+8del NP_001244168.1:n.71+8del
NM_001257240.2:c.71+8del NP_001244169.1:n.71+8del
NM_001257241.2:c.149+8del NP_001244170.1:n.149+8del
NM_001324290.1:c.389+8del NP_001311219.1:n.389+8del
NM_001324291.1:c.71+8del NP_001311220.1:n.71+8del
NM_001324292.1:c.383+8del NP_001311221.1:n.383+8del
NM_001324293.1:c.71+8del NP_001311222.1:n.71+8del
NM_001324294.1:c.71+8del NP_001311223.1:n.71+8del
NM_018466.5:c.383+8del NP_060936.1:n.383+8del
NR_033125.2:n.380+8del
NR_136735.1:n.453+8del
NR_148693.1:n.484+8del
XM_006724693.3:c.383+8del XP_006724756.1:n.383+8del
XM_006724697.3:c.71+8del XP_006724760.2:n.71+8del
XM_006724698.3:c.71+8del XP_006724761.2:n.71+8del
XM_011531028.2:c.383+8del XP_011529330.1:n.383+8del
XM_011531030.2:c.383+8del XP_011529332.1:n.383+8del
XM_011531033.3:c.71+8del XP_011529335.1:n.71+8del
XM_017029846.1:c.383+8del XP_016885335.1:n.383+8del
XM_017029847.1:c.383+8del XP_016885336.1:n.383+8del
XM_017029848.1:c.383+8del XP_016885337.1:n.383+8del
XM_017029849.1:c.383+8del XP_016885338.1:n.383+8del
XM_017029850.2:c.383+8del XP_016885339.1:n.383+8del
XM_017029851.1:c.-328+8del XP_016885340.1:n.-328+8del
XM_024452449.1:c.383+8del XP_024308217.1:n.383+8del
XR_001755726.1:n.423+8del
XR_001755727.1:n.423+8del
XR_001755728.1:n.423+8del
NM_001039210.5:c.324+8del NP_001034299.3:n.324+8del
NM_001099922.3:c.383+8del MANE Select NP_001093392.1:n.383+8del
NM_001168385.3:c.383+8del NP_001161857.1:n.383+8del
NM_001257230.2:c.71+8del NP_001244159.1:n.71+8del
NM_001257235.3:c.71+8del NP_001244164.1:n.71+8del
NM_001257239.3:c.71+8del NP_001244168.1:n.71+8del
NM_001257240.3:c.71+8del NP_001244169.1:n.71+8del
NM_001257241.3:c.149+8del NP_001244170.1:n.149+8del
NM_001324290.2:c.389+8del NP_001311219.1:n.389+8del
NM_001324291.2:c.71+8del NP_001311220.1:n.71+8del
NM_001324292.2:c.383+8del NP_001311221.1:n.383+8del
NM_001324294.2:c.71+8del NP_001311223.1:n.71+8del
NM_018466.6:c.383+8del NP_060936.1:n.383+8del
NR_033125.3:n.328+8del
NR_136735.2:n.453+8del
NR_148693.2:n.432+8del
NM_001257231.2:c.149+8del NP_001244160.1:n.149+8del
NM_001257234.2:c.71+8del NP_001244163.1:n.71+8del
NM_001257237.2:c.71+8del NP_001244166.1:n.71+8del