Canonical Allele Identifier: CA2680447400

Gene: AHI1

Linked Data

• gnomAD v4: 6-135290446-CTGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290453_135290456del , CM000668.2:g.135290453_135290456del	GRCh38
NC_000006.11:g.135611591_135611594del , CM000668.1:g.135611591_135611594del	GRCh37
NC_000006.10:g.135653284_135653287del	NCBI36
NG_008643.1:g.212316_212319del
NG_008643.2:g.212316_212319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3561_3564del MANE Select	ENSP00000265602.6:p.Gly1189GlufsTer5
ENST00000498558.6:n.602_605del
ENST00000527681.2:c.1230_1233del
ENST00000679434.1:c.5177_5180del	ENSP00000505592.1:n.5177_5180del
ENST00000679450.1:c.3300_3303del	ENSP00000506494.1:p.Gly1102GlufsTer5
ENST00000679490.1:n.2936_2939del
ENST00000679502.1:n.2361-4803_2361-4800del
ENST00000679589.1:c.*3589_*3592del	ENSP00000506644.1:n.*3589_*3592del
ENST00000679668.1:c.5093_5096del	ENSP00000505364.1:n.5093_5096del
ENST00000679672.1:c.*1536_*1539del	ENSP00000505697.1:n.*1536_*1539del
ENST00000679711.1:c.1855_1858del
ENST00000679742.1:c.4896-4803_4896-4800del	ENSP00000504890.1:n.4896-4803_4896-4800del
ENST00000679890.1:n.2052_2055del
ENST00000679925.1:c.3486-4803_3486-4800del	ENSP00000505502.1:n.3486-4803_3486-4800del
ENST00000679943.1:c.3622_3625del	ENSP00000505663.1:n.3622_3625del
ENST00000680071.1:n.4334_4337del
ENST00000680119.1:c.3786_3789del	ENSP00000506403.1:n.3786_3789del
ENST00000680328.1:n.670_673del
ENST00000680337.1:c.944-4803_944-4800del
ENST00000680561.1:n.6229-4803_6229-4800del
ENST00000680826.1:c.3746_3749del	ENSP00000505224.1:n.3746_3749del
ENST00000680840.1:c.3789_3792del	ENSP00000505809.1:n.3789_3792del
ENST00000680965.1:c.*1015_*1018del	ENSP00000505398.1:n.*1015_*1018del
ENST00000681022.1:c.3561_3564del	ENSP00000505121.1:p.Gly1189GlufsTer5
ENST00000681057.1:n.2744-4803_2744-4800del
ENST00000681196.1:n.4259-4803_4259-4800del
ENST00000681301.1:c.3408_3411del	ENSP00000505093.1:p.Gly1138GlufsTer5
ENST00000681331.1:n.1290_1293del
ENST00000681332.1:n.4078_4081del
ENST00000681340.1:c.3561_3564del	ENSP00000505666.1:p.Gly1189GlufsTer5
ENST00000681365.1:c.3561_3564del	ENSP00000506604.1:p.Gly1189GlufsTer5
ENST00000681488.1:c.3430_3433del	ENSP00000505884.1:n.3430_3433del
ENST00000681522.1:c.3561_3564del	ENSP00000506005.1:p.Gly1189GlufsTer5
ENST00000681556.1:n.3695_3698del
ENST00000681718.1:c.*2048_*2051del	ENSP00000505266.1:n.*2048_*2051del
ENST00000681754.1:n.4249_4252del
ENST00000681828.1:c.5117_5120del	ENSP00000505608.1:n.5117_5120del
ENST00000681841.1:c.3561_3564del	ENSP00000504965.1:p.Gly1189GlufsTer5
ENST00000681860.1:c.3377_3380del	ENSP00000506250.1:n.3377_3380del
ENST00000265602.10:c.3561_3564del	ENSP00000265602.6:p.Gly1189GlufsTer5
ENST00000367799.6:c.1985-4803_1985-4800del
ENST00000367800.8:c.3561_3564del	ENSP00000356774.4:p.Gly1189GlufsTer5
ENST00000457866.6:c.3561_3564del	ENSP00000388650.2:p.Gly1189GlufsTer5
ENST00000475846.6:c.1991_1994del
ENST00000487135.1:n.155-4803_155-4800del
ENST00000498558.5:n.410_413del
ENST00000527681.1:c.170_173del
NM_001134830.1:c.3561_3564del	NP_001128302.1:p.Gly1189GlufsTer5
NM_001134831.1:c.3561_3564del	NP_001128303.1:p.Gly1189GlufsTer5
NM_017651.4:c.3561_3564del	NP_060121.3:p.Gly1189GlufsTer5
XM_011535910.1:c.3561_3564del	XP_011534212.1:p.Gly1189GlufsTer5
XM_011535911.1:c.3561_3564del	XP_011534213.1:p.Gly1189GlufsTer5
XM_011535914.1:c.*82_*85del	XP_011534216.1:n.*82_*85del
XM_011535915.1:c.3486-4803_3486-4800del	XP_011534217.1:n.3486-4803_3486-4800del
XR_942488.1:n.5403_5406del
XR_942490.1:n.5328-4803_5328-4800del
XR_942493.1:n.5264_5267del
XR_942494.1:n.5101_5104del
NM_001350503.1:c.3561_3564del	NP_001337432.1:p.Gly1189GlufsTer5
NM_001350504.1:c.3486-4803_3486-4800del	NP_001337433.1:n.3486-4803_3486-4800del
XM_011535910.3:c.3561_3564del	XP_011534212.1:p.Gly1189GlufsTer5
XM_011535911.3:c.3561_3564del	XP_011534213.1:p.Gly1189GlufsTer5
XM_017010980.2:c.*82_*85del	XP_016866469.1:n.*82_*85del
XM_017010981.2:c.3507_3510del	XP_016866470.1:p.Gly1171GlufsTer5
XM_024446479.1:c.3507_3510del	XP_024302247.1:p.Gly1171GlufsTer5
XR_001743479.2:n.5500_5503del
XR_001743480.2:n.4328_4331del
XR_001743481.2:n.4293_4296del
XR_001743482.2:n.4196_4199del
XR_001743483.2:n.5425-4803_5425-4800del
XR_001743484.2:n.5361_5364del
XR_001743485.2:n.4057_4060del
XR_001743486.2:n.5286-4803_5286-4800del
XR_001743487.2:n.5483_5486del
XR_001743488.1:n.5725_5728del
XR_001743489.2:n.5198_5201del
XR_001743490.2:n.4179_4182del
XR_002956286.1:n.3832_3835del
XR_002956287.1:n.3757-4803_3757-4800del
NM_001134831.2:c.3561_3564del MANE Select	NP_001128303.1:p.Gly1189GlufsTer5
NM_001134830.2:c.3561_3564del	NP_001128302.1:p.Gly1189GlufsTer5
NM_001350503.2:c.3561_3564del	NP_001337432.1:p.Gly1189GlufsTer5
NM_001350504.2:c.3486-4803_3486-4800del	NP_001337433.1:n.3486-4803_3486-4800del
NM_017651.5:c.3561_3564del	NP_060121.3:p.Gly1189GlufsTer5