Canonical Allele Identifier: CA148531299
Community Standard Title: NM_001134831.2(AHI1):c.3474del (p.Glu1158AspfsTer3)
Gene: AHI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135300512del , CM000668.2:g.135300512del GRCh38
NC_000006.11:g.135621650del , CM000668.1:g.135621650del GRCh37
NC_000006.10:g.135663343del NCBI36
NG_008643.1:g.202255del
NG_008643.2:g.202255del

Transcript Alleles

HGVS Amino-acid Change
NM_001134831.2:c.3474del MANE Select NP_001128303.1:p.Glu1158AspfsTer3
ENST00000265602.11:c.3474del MANE Select ENSP00000265602.6:p.Glu1158AspfsTer3
NM_001134830.1:c.3474del NP_001128302.1:p.Glu1158AspfsTer3
NM_001134830.2:c.3474del NP_001128302.1:p.Glu1158AspfsTer3
NM_001134831.1:c.3474del NP_001128303.1:p.Glu1158AspfsTer3
NM_001350503.1:c.3474del NP_001337432.1:p.Glu1158AspfsTer3
NM_001350503.2:c.3474del NP_001337432.1:p.Glu1158AspfsTer3
NM_001350504.1:c.3474del NP_001337433.1:p.Glu1158AspfsTer3
NM_001350504.2:c.3474del NP_001337433.1:p.Glu1158AspfsTer3
NM_017651.4:c.3474del NP_060121.3:p.Glu1158AspfsTer3
NM_017651.5:c.3474del NP_060121.3:p.Glu1158AspfsTer3
ENST00000265602.10:c.3474del ENSP00000265602.6:p.Glu1158AspfsTer3
ENST00000367799.6:c.1973del
ENST00000367800.8:c.3474del ENSP00000356774.4:p.Glu1158AspfsTer3
ENST00000457866.6:c.3474del ENSP00000388650.2:p.Glu1158AspfsTer3
ENST00000475846.6:c.1904del
ENST00000487135.1:n.143del
ENST00000498558.5:n.323del
ENST00000498558.6:n.454del
ENST00000527681.1:c.22del
ENST00000527681.2:c.1143del
ENST00000679434.1:c.5069del ENSP00000505592.1:n.5069del
ENST00000679450.1:c.3213del ENSP00000506494.1:p.Glu1071AspfsTer3
ENST00000679502.1:n.2349del
ENST00000679589.1:c.*3502del ENSP00000506644.1:n.*3502del
ENST00000679668.1:c.5006del ENSP00000505364.1:n.5006del
ENST00000679672.1:c.*1449del ENSP00000505697.1:n.*1449del
ENST00000679711.1:c.1768del
ENST00000679742.1:c.4884del ENSP00000504890.1:n.4884del
ENST00000679890.1:n.1965del
ENST00000679925.1:c.3474del ENSP00000505502.1:p.Glu1158AspfsTer3
ENST00000679943.1:c.3474del ENSP00000505663.1:p.Glu1158AspfsTer3
ENST00000680071.1:n.4247del
ENST00000680119.1:c.3699del ENSP00000506403.1:n.3699del
ENST00000680328.1:n.583del
ENST00000680337.1:c.932del
ENST00000680561.1:n.6217del
ENST00000680826.1:c.3659del ENSP00000505224.1:n.3659del
ENST00000680840.1:c.3702del ENSP00000505809.1:n.3702del
ENST00000680965.1:c.*928del ENSP00000505398.1:n.*928del
ENST00000681022.1:c.3474del ENSP00000505121.1:p.Glu1158AspfsTer3
ENST00000681057.1:n.2744-14864del
ENST00000681196.1:n.4247del
ENST00000681301.1:c.3321del ENSP00000505093.1:p.Glu1107AspfsTer3
ENST00000681331.1:n.1203del
ENST00000681332.1:n.3991del
ENST00000681340.1:c.3474del ENSP00000505666.1:p.Glu1158AspfsTer3
ENST00000681365.1:c.3474del ENSP00000506604.1:p.Glu1158AspfsTer3
ENST00000681488.1:c.3343del ENSP00000505884.1:n.3343del
ENST00000681522.1:c.3474del ENSP00000506005.1:p.Glu1158AspfsTer3
ENST00000681556.1:n.3608del
ENST00000681718.1:c.*1961del ENSP00000505266.1:n.*1961del
ENST00000681754.1:n.4162del
ENST00000681828.1:c.5030del ENSP00000505608.1:n.5030del
ENST00000681841.1:c.3474del ENSP00000504965.1:p.Glu1158AspfsTer3
ENST00000681860.1:c.3290del ENSP00000506250.1:n.3290del
XM_011535910.1:c.3474del XP_011534212.1:p.Glu1158AspfsTer3
XM_011535910.3:c.3474del XP_011534212.1:p.Glu1158AspfsTer3
XM_011535911.1:c.3474del XP_011534213.1:p.Glu1158AspfsTer3
XM_011535911.3:c.3474del XP_011534213.1:p.Glu1158AspfsTer3
XM_011535912.1:c.*52del XP_011534214.1:n.*52del
XM_011535914.1:c.3474del XP_011534216.1:p.Glu1158AspfsTer3
XM_011535915.1:c.3474del XP_011534217.1:p.Glu1158AspfsTer3
XM_017010978.2:c.*52del XP_016866467.1:n.*52del
XM_017010980.2:c.3474del XP_016866469.1:p.Glu1158AspfsTer3
XM_017010981.2:c.3420del XP_016866470.1:p.Glu1140AspfsTer3
XM_024446479.1:c.3420del XP_024302247.1:p.Glu1140AspfsTer3
XR_001743479.2:n.5413del
XR_001743480.2:n.4241del
XR_001743481.2:n.4206del
XR_001743482.2:n.4109del
XR_001743483.2:n.5413del
XR_001743484.2:n.5274del
XR_001743485.2:n.3970del
XR_001743486.2:n.5274del
XR_001743487.2:n.5396del
XR_001743488.1:n.5638del
XR_001743489.2:n.5111del
XR_001743490.2:n.4092del
XR_002956286.1:n.3745del
XR_002956287.1:n.3745del
XR_942488.1:n.5316del
XR_942489.1:n.5316del
XR_942490.1:n.5316del
XR_942491.1:n.4012del
XR_942493.1:n.5177del
XR_942494.1:n.5014del