Canonical Allele Identifier: CA10493980
Gene: ALG13 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.111744805_111744807dup , CM000685.2:g.111744805_111744807dup GRCh38
NC_000023.10:g.110988033_110988035dup , CM000685.1:g.110988033_110988035dup GRCh37
NC_000023.9:g.110874689_110874691dup NCBI36
NG_016238.1:g.68688_68690dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000623622.2:c.2521+7926_2521+7928dup ENSP00000485624.2:n.2521+7926_2521+7928dup
ENST00000699748.1:c.*2490+7926_*2490+7928dup ENSP00000514558.1:n.*2490+7926_*2490+7928dup
ENST00000699778.1:c.1701+7926_1701+7928dup ENSP00000514584.1:n.1701+7926_1701+7928dup
ENST00000394780.8:c.2833_2835dup MANE Select ENSP00000378260.3:p.Pro945_Ala946insPro
ENST00000636363.1:c.*1483+7926_*1483+7928dup ENSP00000490681.1:n.*1483+7926_*1483+7928dup
ENST00000251943.8:c.2383+7926_2383+7928dup ENSP00000251943.4:n.2383+7926_2383+7928dup
ENST00000394780.7:c.2833_2835dup ENSP00000378260.3:p.Pro945_Ala946insPro
ENST00000436609.5:c.2383+7926_2383+7928dup ENSP00000392990.2:n.2383+7926_2383+7928dup
ENST00000461669.5:n.55+7724_55+7726dup
ENST00000470971.5:c.*1825_*1827dup ENSP00000479424.2:n.*1825_*1827dup
ENST00000495283.5:c.*2560+7926_*2560+7928dup ENSP00000427093.3:n.*2560+7926_*2560+7928dup
ENST00000610588.4:c.2599_2601dup ENSP00000479731.1:p.Pro867_Ala868insPro
ENST00000621367.4:c.2383+7926_2383+7928dup ENSP00000481509.1:n.2383+7926_2383+7928dup
ENST00000623144.3:c.*2664+7926_*2664+7928dup ENSP00000485279.1:n.*2664+7926_*2664+7928dup
ENST00000623148.3:c.2851_2853dup ENSP00000485658.1:n.2851_2853dup
ENST00000624161.3:c.*2459+7926_*2459+7928dup ENSP00000485181.1:n.*2459+7926_*2459+7928dup
NM_001099922.2:c.2833_2835dup NP_001093392.1:p.Pro945_Ala946insPro
NM_001257230.1:c.2383+7926_2383+7928dup NP_001244159.1:n.2383+7926_2383+7928dup
NM_001257231.1:c.2599_2601dup NP_001244160.1:p.Pro867_Ala868insPro
NM_001257234.1:c.2383+7926_2383+7928dup NP_001244163.1:n.2383+7926_2383+7928dup
NM_001257237.1:c.2383+7926_2383+7928dup NP_001244166.1:n.2383+7926_2383+7928dup
XM_006724693.2:c.2794_2796dup XP_006724756.1:p.Pro932_Ala933insPro
XM_006724695.2:c.2695+7926_2695+7928dup XP_006724758.1:n.2695+7926_2695+7928dup
XM_006724697.2:c.2593_2595dup XP_006724760.2:p.Pro865_Ala866insPro
XM_006724698.2:c.2593_2595dup XP_006724761.2:p.Pro865_Ala866insPro
XM_011531028.1:c.2905_2907dup XP_011529330.1:p.Pro969_Ala970insPro
XM_011531029.1:c.2734_2736dup XP_011529331.1:p.Pro912_Ala913insPro
XM_011531030.1:c.2767+7926_2767+7928dup XP_011529332.1:n.2767+7926_2767+7928dup
XM_011531031.1:c.2593_2595dup XP_011529333.1:p.Pro865_Ala866insPro
XM_011531032.1:c.2593_2595dup XP_011529334.1:p.Pro865_Ala866insPro
XM_011531033.1:c.2593_2595dup XP_011529335.1:p.Pro865_Ala866insPro
XM_011531034.1:c.2296_2298dup XP_011529336.1:p.Pro766_Ala767insPro
XM_011531035.1:c.2101_2103dup XP_011529337.1:p.Pro701_Ala702insPro
XM_011531036.1:c.1450_1452dup XP_011529338.1:p.Pro484_Ala485insPro
XM_011531037.1:c.1429_1431dup XP_011529339.1:p.Pro477_Ala478insPro
NM_001324292.1:c.2695+7926_2695+7928dup NP_001311221.1:n.2695+7926_2695+7928dup
NM_001324293.1:c.2209+7926_2209+7928dup NP_001311222.1:n.2209+7926_2209+7928dup
NR_148693.1:n.2475+7926_2475+7928dup
XM_006724693.3:c.2794_2796dup XP_006724756.1:p.Pro932_Ala933insPro
XM_006724697.3:c.2593_2595dup XP_006724760.2:p.Pro865_Ala866insPro
XM_006724698.3:c.2593_2595dup XP_006724761.2:p.Pro865_Ala866insPro
XM_011531028.2:c.2905_2907dup XP_011529330.1:p.Pro969_Ala970insPro
XM_011531030.2:c.2767+7926_2767+7928dup XP_011529332.1:n.2767+7926_2767+7928dup
XM_011531033.3:c.2593_2595dup XP_011529335.1:p.Pro865_Ala866insPro
XM_011531034.2:c.2296_2298dup XP_011529336.1:p.Pro766_Ala767insPro
XM_017029846.1:c.2881_2883dup XP_016885335.1:p.Pro961_Ala962insPro
XM_017029847.1:c.2866_2868dup XP_016885336.1:p.Pro956_Ala957insPro
XM_017029848.1:c.2671+7926_2671+7928dup XP_016885337.1:n.2671+7926_2671+7928dup
XM_017029851.1:c.2101_2103dup XP_016885340.1:p.Pro701_Ala702insPro
XM_017029852.1:c.1936_1938dup XP_016885341.1:p.Pro646_Ala647insPro
XM_017029853.1:c.1450_1452dup XP_016885342.1:p.Pro484_Ala485insPro
XM_017029854.2:c.1261_1263dup XP_016885343.1:p.Pro421_Ala422insPro
XM_017029855.1:c.1240+7926_1240+7928dup XP_016885344.1:n.1240+7926_1240+7928dup
NM_001099922.3:c.2833_2835dup MANE Select NP_001093392.1:p.Pro945_Ala946insPro
NM_001257230.2:c.2383+7926_2383+7928dup NP_001244159.1:n.2383+7926_2383+7928dup
NM_001324292.2:c.2695+7926_2695+7928dup NP_001311221.1:n.2695+7926_2695+7928dup
NR_148693.2:n.2423+7926_2423+7928dup
NM_001257231.2:c.2599_2601dup NP_001244160.1:p.Pro867_Ala868insPro
NM_001257234.2:c.2383+7926_2383+7928dup NP_001244163.1:n.2383+7926_2383+7928dup
NM_001257237.2:c.2383+7926_2383+7928dup NP_001244166.1:n.2383+7926_2383+7928dup
Search 100 bp 5'
Search 100 bp 3'