Canonical Allele Identifier: CA242424

Gene: ALG13

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.111744768_111744770dup , CM000685.2:g.111744768_111744770dup	GRCh38
NC_000023.10:g.110987996_110987998dup , CM000685.1:g.110987996_110987998dup	GRCh37
NC_000023.9:g.110874652_110874654dup	NCBI36
NG_016238.1:g.68651_68653dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623622.2:c.2521+7889_2521+7891dup	ENSP00000485624.2:n.2521+7889_2521+7891dup
ENST00000699748.1:c.*2490+7889_*2490+7891dup	ENSP00000514558.1:n.*2490+7889_*2490+7891dup
ENST00000699778.1:c.1701+7889_1701+7891dup	ENSP00000514584.1:n.1701+7889_1701+7891dup
ENST00000394780.8:c.2796_2798dup MANE Select	ENSP00000378260.3:p.Pro933_Pro934insPro
ENST00000636363.1:c.*1483+7889_*1483+7891dup	ENSP00000490681.1:n.*1483+7889_*1483+7891dup
ENST00000251943.8:c.2383+7889_2383+7891dup	ENSP00000251943.4:n.2383+7889_2383+7891dup
ENST00000394780.7:c.2796_2798dup	ENSP00000378260.3:p.Pro933_Pro934insPro
ENST00000436609.5:c.2383+7889_2383+7891dup	ENSP00000392990.2:n.2383+7889_2383+7891dup
ENST00000461669.5:n.55+7687_55+7689dup
ENST00000470971.5:c.*1788_*1790dup	ENSP00000479424.2:n.*1788_*1790dup
ENST00000495283.5:c.*2560+7889_*2560+7891dup	ENSP00000427093.3:n.*2560+7889_*2560+7891dup
ENST00000610588.4:c.2562_2564dup	ENSP00000479731.1:p.Pro855_Pro856insPro
ENST00000621367.4:c.2383+7889_2383+7891dup	ENSP00000481509.1:n.2383+7889_2383+7891dup
ENST00000623144.3:c.*2664+7889_*2664+7891dup	ENSP00000485279.1:n.*2664+7889_*2664+7891dup
ENST00000623148.3:c.2814_2816dup	ENSP00000485658.1:n.2814_2816dup
ENST00000624161.3:c.*2459+7889_*2459+7891dup	ENSP00000485181.1:n.*2459+7889_*2459+7891dup
NM_001099922.2:c.2796_2798dup	NP_001093392.1:p.Pro933_Pro934insPro
NM_001257230.1:c.2383+7889_2383+7891dup	NP_001244159.1:n.2383+7889_2383+7891dup
NM_001257231.1:c.2562_2564dup	NP_001244160.1:p.Pro855_Pro856insPro
NM_001257234.1:c.2383+7889_2383+7891dup	NP_001244163.1:n.2383+7889_2383+7891dup
NM_001257237.1:c.2383+7889_2383+7891dup	NP_001244166.1:n.2383+7889_2383+7891dup
XM_006724693.2:c.2757_2759dup	XP_006724756.1:p.Pro920_Pro921insPro
XM_006724695.2:c.2695+7889_2695+7891dup	XP_006724758.1:n.2695+7889_2695+7891dup
XM_006724697.2:c.2556_2558dup	XP_006724760.2:p.Pro853_Pro854insPro
XM_006724698.2:c.2556_2558dup	XP_006724761.2:p.Pro853_Pro854insPro
XM_011531028.1:c.2868_2870dup	XP_011529330.1:p.Pro957_Pro958insPro
XM_011531029.1:c.2697_2699dup	XP_011529331.1:p.Pro900_Pro901insPro
XM_011531030.1:c.2767+7889_2767+7891dup	XP_011529332.1:n.2767+7889_2767+7891dup
XM_011531031.1:c.2556_2558dup	XP_011529333.1:p.Pro853_Pro854insPro
XM_011531032.1:c.2556_2558dup	XP_011529334.1:p.Pro853_Pro854insPro
XM_011531033.1:c.2556_2558dup	XP_011529335.1:p.Pro853_Pro854insPro
XM_011531034.1:c.2259_2261dup	XP_011529336.1:p.Pro754_Pro755insPro
XM_011531035.1:c.2064_2066dup	XP_011529337.1:p.Pro689_Pro690insPro
XM_011531036.1:c.1413_1415dup	XP_011529338.1:p.Pro472_Pro473insPro
XM_011531037.1:c.1392_1394dup	XP_011529339.1:p.Pro465_Pro466insPro
NM_001324292.1:c.2695+7889_2695+7891dup	NP_001311221.1:n.2695+7889_2695+7891dup
NM_001324293.1:c.2209+7889_2209+7891dup	NP_001311222.1:n.2209+7889_2209+7891dup
NR_148693.1:n.2475+7889_2475+7891dup
XM_006724693.3:c.2757_2759dup	XP_006724756.1:p.Pro920_Pro921insPro
XM_006724697.3:c.2556_2558dup	XP_006724760.2:p.Pro853_Pro854insPro
XM_006724698.3:c.2556_2558dup	XP_006724761.2:p.Pro853_Pro854insPro
XM_011531028.2:c.2868_2870dup	XP_011529330.1:p.Pro957_Pro958insPro
XM_011531030.2:c.2767+7889_2767+7891dup	XP_011529332.1:n.2767+7889_2767+7891dup
XM_011531033.3:c.2556_2558dup	XP_011529335.1:p.Pro853_Pro854insPro
XM_011531034.2:c.2259_2261dup	XP_011529336.1:p.Pro754_Pro755insPro
XM_017029846.1:c.2844_2846dup	XP_016885335.1:p.Pro949_Pro950insPro
XM_017029847.1:c.2829_2831dup	XP_016885336.1:p.Pro944_Pro945insPro
XM_017029848.1:c.2671+7889_2671+7891dup	XP_016885337.1:n.2671+7889_2671+7891dup
XM_017029851.1:c.2064_2066dup	XP_016885340.1:p.Pro689_Pro690insPro
XM_017029852.1:c.1899_1901dup	XP_016885341.1:p.Pro634_Pro635insPro
XM_017029853.1:c.1413_1415dup	XP_016885342.1:p.Pro472_Pro473insPro
XM_017029854.2:c.1224_1226dup	XP_016885343.1:p.Pro409_Pro410insPro
XM_017029855.1:c.1240+7889_1240+7891dup	XP_016885344.1:n.1240+7889_1240+7891dup
NM_001099922.3:c.2796_2798dup MANE Select	NP_001093392.1:p.Pro933_Pro934insPro
NM_001257230.2:c.2383+7889_2383+7891dup	NP_001244159.1:n.2383+7889_2383+7891dup
NM_001324292.2:c.2695+7889_2695+7891dup	NP_001311221.1:n.2695+7889_2695+7891dup
NR_148693.2:n.2423+7889_2423+7891dup
NM_001257231.2:c.2562_2564dup	NP_001244160.1:p.Pro855_Pro856insPro
NM_001257234.2:c.2383+7889_2383+7891dup	NP_001244163.1:n.2383+7889_2383+7891dup
NM_001257237.2:c.2383+7889_2383+7891dup	NP_001244166.1:n.2383+7889_2383+7891dup