Canonical Allele Identifier: CA1665838890

Gene: AHI1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290491_135290494delinsGGTC , CM000668.2:g.135290491_135290494delinsGGTC	GRCh38
NC_000006.11:g.135611629_135611632delinsGGTC , CM000668.1:g.135611629_135611632delinsGGTC	GRCh37
NC_000006.10:g.135653322_135653325delinsGGTC	NCBI36
NG_008643.1:g.212272_212275delinsGACC
NG_008643.2:g.212272_212275delinsGACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000265602.11:c.3517_3520delinsGACC MANE Select	ENSP00000265602.6:p.Asp1173=
ENST00000498558.6:n.558_561delinsGACC
ENST00000527681.2:c.1186_1189delinsGACC
ENST00000679434.1:c.5133_5136delinsGACC	ENSP00000505592.1:n.5133_5136delinsGACC
ENST00000679450.1:c.3256_3259delinsGACC	ENSP00000506494.1:p.Asp1086=
ENST00000679490.1:n.2892_2895delinsGACC
ENST00000679502.1:n.2361-4847_2361-4844delinsGACC
ENST00000679589.1:c.*3545_*3548delinsGACC	ENSP00000506644.1:n.*3545_*3548delinsGACC
ENST00000679668.1:c.5049_5052delinsGACC	ENSP00000505364.1:n.5049_5052delinsGACC
ENST00000679672.1:c.*1492_*1495delinsGACC	ENSP00000505697.1:n.*1492_*1495delinsGACC
ENST00000679711.1:c.1811_1814delinsGACC
ENST00000679742.1:c.4896-4847_4896-4844delinsGACC	ENSP00000504890.1:n.4896-4847_4896-4844delinsGACC
ENST00000679890.1:n.2008_2011delinsGACC
ENST00000679925.1:c.3486-4847_3486-4844delinsGACC	ENSP00000505502.1:n.3486-4847_3486-4844delinsGACC
ENST00000679943.1:c.3578_3581delinsGACC	ENSP00000505663.1:n.3578_3581delinsGACC
ENST00000680071.1:n.4290_4293delinsGACC
ENST00000680119.1:c.3742_3745delinsGACC	ENSP00000506403.1:n.3742_3745delinsGACC
ENST00000680328.1:n.626_629delinsGACC
ENST00000680337.1:c.944-4847_944-4844delinsGACC
ENST00000680561.1:n.6229-4847_6229-4844delinsGACC
ENST00000680826.1:c.3702_3705delinsGACC	ENSP00000505224.1:n.3702_3705delinsGACC
ENST00000680840.1:c.3745_3748delinsGACC	ENSP00000505809.1:n.3745_3748delinsGACC
ENST00000680965.1:c.*971_*974delinsGACC	ENSP00000505398.1:n.*971_*974delinsGACC
ENST00000681022.1:c.3517_3520delinsGACC	ENSP00000505121.1:p.Asp1173=
ENST00000681057.1:n.2744-4847_2744-4844delinsGACC
ENST00000681196.1:n.4259-4847_4259-4844delinsGACC
ENST00000681301.1:c.3364_3367delinsGACC	ENSP00000505093.1:p.Asp1122=
ENST00000681331.1:n.1246_1249delinsGACC
ENST00000681332.1:n.4034_4037delinsGACC
ENST00000681340.1:c.3517_3520delinsGACC	ENSP00000505666.1:p.Asp1173=
ENST00000681365.1:c.3517_3520delinsGACC	ENSP00000506604.1:p.Asp1173=
ENST00000681488.1:c.3386_3389delinsGACC	ENSP00000505884.1:n.3386_3389delinsGACC
ENST00000681522.1:c.3517_3520delinsGACC	ENSP00000506005.1:p.Asp1173=
ENST00000681556.1:n.3651_3654delinsGACC
ENST00000681718.1:c.*2004_*2007delinsGACC	ENSP00000505266.1:n.*2004_*2007delinsGACC
ENST00000681754.1:n.4205_4208delinsGACC
ENST00000681828.1:c.5073_5076delinsGACC	ENSP00000505608.1:n.5073_5076delinsGACC
ENST00000681841.1:c.3517_3520delinsGACC	ENSP00000504965.1:p.Asp1173=
ENST00000681860.1:c.3333_3336delinsGACC	ENSP00000506250.1:n.3333_3336delinsGACC
ENST00000265602.10:c.3517_3520delinsGACC	ENSP00000265602.6:p.Asp1173=
ENST00000367799.6:c.1985-4847_1985-4844delinsGACC
ENST00000367800.8:c.3517_3520delinsGACC	ENSP00000356774.4:p.Asp1173=
ENST00000457866.6:c.3517_3520delinsGACC	ENSP00000388650.2:p.Asp1173=
ENST00000475846.6:c.1947_1950delinsGACC
ENST00000487135.1:n.155-4847_155-4844delinsGACC
ENST00000498558.5:n.366_369delinsGACC
ENST00000527681.1:c.126_129delinsGACC
NM_001134830.1:c.3517_3520delinsGACC	NP_001128302.1:p.Asp1173=
NM_001134831.1:c.3517_3520delinsGACC	NP_001128303.1:p.Asp1173=
NM_017651.4:c.3517_3520delinsGACC	NP_060121.3:p.Asp1173=
XM_011535910.1:c.3517_3520delinsGACC	XP_011534212.1:p.Asp1173=
XM_011535911.1:c.3517_3520delinsGACC	XP_011534213.1:p.Asp1173=
XM_011535914.1:c.*38_*41delinsGACC	XP_011534216.1:n.*38_*41delinsGACC
XM_011535915.1:c.3486-4847_3486-4844delinsGACC	XP_011534217.1:n.3486-4847_3486-4844delinsGACC
XR_942488.1:n.5359_5362delinsGACC
XR_942490.1:n.5328-4847_5328-4844delinsGACC
XR_942493.1:n.5220_5223delinsGACC
XR_942494.1:n.5057_5060delinsGACC
NM_001350503.1:c.3517_3520delinsGACC	NP_001337432.1:p.Asp1173=
NM_001350504.1:c.3486-4847_3486-4844delinsGACC	NP_001337433.1:n.3486-4847_3486-4844delinsGACC
XM_011535910.3:c.3517_3520delinsGACC	XP_011534212.1:p.Asp1173=
XM_011535911.3:c.3517_3520delinsGACC	XP_011534213.1:p.Asp1173=
XM_017010980.2:c.*38_*41delinsGACC	XP_016866469.1:n.*38_*41delinsGACC
XM_017010981.2:c.3463_3466delinsGACC	XP_016866470.1:p.Asp1155=
XM_024446479.1:c.3463_3466delinsGACC	XP_024302247.1:p.Asp1155=
XR_001743479.2:n.5456_5459delinsGACC
XR_001743480.2:n.4284_4287delinsGACC
XR_001743481.2:n.4249_4252delinsGACC
XR_001743482.2:n.4152_4155delinsGACC
XR_001743483.2:n.5425-4847_5425-4844delinsGACC
XR_001743484.2:n.5317_5320delinsGACC
XR_001743485.2:n.4013_4016delinsGACC
XR_001743486.2:n.5286-4847_5286-4844delinsGACC
XR_001743487.2:n.5439_5442delinsGACC
XR_001743488.1:n.5681_5684delinsGACC
XR_001743489.2:n.5154_5157delinsGACC
XR_001743490.2:n.4135_4138delinsGACC
XR_002956286.1:n.3788_3791delinsGACC
XR_002956287.1:n.3757-4847_3757-4844delinsGACC
NM_001134831.2:c.3517_3520delinsGACC MANE Select	NP_001128303.1:p.Asp1173=
NM_001134830.2:c.3517_3520delinsGACC	NP_001128302.1:p.Asp1173=
NM_001350503.2:c.3517_3520delinsGACC	NP_001337432.1:p.Asp1173=
NM_001350504.2:c.3486-4847_3486-4844delinsGACC	NP_001337433.1:n.3486-4847_3486-4844delinsGACC
NM_017651.5:c.3517_3520delinsGACC	NP_060121.3:p.Asp1173=