Canonical Allele Identifier: CA2680447401
Gene: AHI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135290464del , CM000668.2:g.135290464del GRCh38
NC_000006.11:g.135611602del , CM000668.1:g.135611602del GRCh37
NC_000006.10:g.135653295del NCBI36
NG_008643.1:g.212302del
NG_008643.2:g.212302del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265602.11:c.3547del MANE Select ENSP00000265602.6:p.Arg1183GlyfsTer12
ENST00000498558.6:n.588del
ENST00000527681.2:c.1216del
ENST00000679434.1:c.5163del ENSP00000505592.1:n.5163del
ENST00000679450.1:c.3286del ENSP00000506494.1:p.Arg1096GlyfsTer12
ENST00000679490.1:n.2922del
ENST00000679502.1:n.2361-4817del
ENST00000679589.1:c.*3575del ENSP00000506644.1:n.*3575del
ENST00000679668.1:c.5079del ENSP00000505364.1:n.5079del
ENST00000679672.1:c.*1522del ENSP00000505697.1:n.*1522del
ENST00000679711.1:c.1841del
ENST00000679742.1:c.4896-4817del ENSP00000504890.1:n.4896-4817del
ENST00000679890.1:n.2038del
ENST00000679925.1:c.3486-4817del ENSP00000505502.1:n.3486-4817del
ENST00000679943.1:c.3608del ENSP00000505663.1:n.3608del
ENST00000680071.1:n.4320del
ENST00000680119.1:c.3772del ENSP00000506403.1:n.3772del
ENST00000680328.1:n.656del
ENST00000680337.1:c.944-4817del
ENST00000680561.1:n.6229-4817del
ENST00000680826.1:c.3732del ENSP00000505224.1:n.3732del
ENST00000680840.1:c.3775del ENSP00000505809.1:n.3775del
ENST00000680965.1:c.*1001del ENSP00000505398.1:n.*1001del
ENST00000681022.1:c.3547del ENSP00000505121.1:p.Arg1183GlyfsTer12
ENST00000681057.1:n.2744-4817del
ENST00000681196.1:n.4259-4817del
ENST00000681301.1:c.3394del ENSP00000505093.1:p.Arg1132GlyfsTer12
ENST00000681331.1:n.1276del
ENST00000681332.1:n.4064del
ENST00000681340.1:c.3547del ENSP00000505666.1:p.Arg1183GlyfsTer12
ENST00000681365.1:c.3547del ENSP00000506604.1:p.Arg1183GlyfsTer12
ENST00000681488.1:c.3416del ENSP00000505884.1:n.3416del
ENST00000681522.1:c.3547del ENSP00000506005.1:p.Arg1183GlyfsTer12
ENST00000681556.1:n.3681del
ENST00000681718.1:c.*2034del ENSP00000505266.1:n.*2034del
ENST00000681754.1:n.4235del
ENST00000681828.1:c.5103del ENSP00000505608.1:n.5103del
ENST00000681841.1:c.3547del ENSP00000504965.1:p.Arg1183GlyfsTer12
ENST00000681860.1:c.3363del ENSP00000506250.1:n.3363del
ENST00000265602.10:c.3547del ENSP00000265602.6:p.Arg1183GlyfsTer12
ENST00000367799.6:c.1985-4817del
ENST00000367800.8:c.3547del ENSP00000356774.4:p.Arg1183GlyfsTer12
ENST00000457866.6:c.3547del ENSP00000388650.2:p.Arg1183GlyfsTer12
ENST00000475846.6:c.1977del
ENST00000487135.1:n.155-4817del
ENST00000498558.5:n.396del
ENST00000527681.1:c.156del
NM_001134830.1:c.3547del NP_001128302.1:p.Arg1183GlyfsTer12
NM_001134831.1:c.3547del NP_001128303.1:p.Arg1183GlyfsTer12
NM_017651.4:c.3547del NP_060121.3:p.Arg1183GlyfsTer12
XM_011535910.1:c.3547del XP_011534212.1:p.Arg1183GlyfsTer12
XM_011535911.1:c.3547del XP_011534213.1:p.Arg1183GlyfsTer12
XM_011535914.1:c.*68del XP_011534216.1:n.*68del
XM_011535915.1:c.3486-4817del XP_011534217.1:n.3486-4817del
XR_942488.1:n.5389del
XR_942490.1:n.5328-4817del
XR_942493.1:n.5250del
XR_942494.1:n.5087del
NM_001350503.1:c.3547del NP_001337432.1:p.Arg1183GlyfsTer12
NM_001350504.1:c.3486-4817del NP_001337433.1:n.3486-4817del
XM_011535910.3:c.3547del XP_011534212.1:p.Arg1183GlyfsTer12
XM_011535911.3:c.3547del XP_011534213.1:p.Arg1183GlyfsTer12
XM_017010980.2:c.*68del XP_016866469.1:n.*68del
XM_017010981.2:c.3493del XP_016866470.1:p.Arg1165GlyfsTer12
XM_024446479.1:c.3493del XP_024302247.1:p.Arg1165GlyfsTer12
XR_001743479.2:n.5486del
XR_001743480.2:n.4314del
XR_001743481.2:n.4279del
XR_001743482.2:n.4182del
XR_001743483.2:n.5425-4817del
XR_001743484.2:n.5347del
XR_001743485.2:n.4043del
XR_001743486.2:n.5286-4817del
XR_001743487.2:n.5469del
XR_001743488.1:n.5711del
XR_001743489.2:n.5184del
XR_001743490.2:n.4165del
XR_002956286.1:n.3818del
XR_002956287.1:n.3757-4817del
NM_001134831.2:c.3547del MANE Select NP_001128303.1:p.Arg1183GlyfsTer12
NM_001134830.2:c.3547del NP_001128302.1:p.Arg1183GlyfsTer12
NM_001350503.2:c.3547del NP_001337432.1:p.Arg1183GlyfsTer12
NM_001350504.2:c.3486-4817del NP_001337433.1:n.3486-4817del
NM_017651.5:c.3547del NP_060121.3:p.Arg1183GlyfsTer12