Canonical Allele Identifier: CA1665838782

Gene: AHI1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290437_135290438delinsCT , CM000668.2:g.135290437_135290438delinsCT	GRCh38
NC_000006.11:g.135611575_135611576delinsCT , CM000668.1:g.135611575_135611576delinsCT	GRCh37
NC_000006.10:g.135653268_135653269delinsCT	NCBI36
NG_008643.1:g.212328_212329delinsAG
NG_008643.2:g.212328_212329delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3573_3574delinsAG MANE Select	ENSP00000265602.6:p.Lys1191=
ENST00000498558.6:n.614_615delinsAG
ENST00000527681.2:c.1242_1243delinsAG
ENST00000679434.1:c.5189_5190delinsAG	ENSP00000505592.1:n.5189_5190delinsAG
ENST00000679450.1:c.3312_3313delinsAG	ENSP00000506494.1:p.Lys1104=
ENST00000679490.1:n.2948_2949delinsAG
ENST00000679502.1:n.2361-4791_2361-4790delinsAG
ENST00000679589.1:c.*3601_*3602delinsAG	ENSP00000506644.1:n.*3601_*3602delinsAG
ENST00000679668.1:c.5105_5106delinsAG	ENSP00000505364.1:n.5105_5106delinsAG
ENST00000679672.1:c.*1548_*1549delinsAG	ENSP00000505697.1:n.*1548_*1549delinsAG
ENST00000679711.1:c.1867_1868delinsAG
ENST00000679742.1:c.4896-4791_4896-4790delinsAG	ENSP00000504890.1:n.4896-4791_4896-4790delinsAG
ENST00000679890.1:n.2064_2065delinsAG
ENST00000679925.1:c.3486-4791_3486-4790delinsAG	ENSP00000505502.1:n.3486-4791_3486-4790delinsAG
ENST00000679943.1:c.3634_3635delinsAG	ENSP00000505663.1:n.3634_3635delinsAG
ENST00000680071.1:n.4346_4347delinsAG
ENST00000680119.1:c.3798_3799delinsAG	ENSP00000506403.1:n.3798_3799delinsAG
ENST00000680328.1:n.682_683delinsAG
ENST00000680337.1:c.944-4791_944-4790delinsAG
ENST00000680561.1:n.6229-4791_6229-4790delinsAG
ENST00000680826.1:c.3758_3759delinsAG	ENSP00000505224.1:n.3758_3759delinsAG
ENST00000680840.1:c.3801_3802delinsAG	ENSP00000505809.1:n.3801_3802delinsAG
ENST00000680965.1:c.*1027_*1028delinsAG	ENSP00000505398.1:n.*1027_*1028delinsAG
ENST00000681022.1:c.3573_3574delinsAG	ENSP00000505121.1:p.Lys1191=
ENST00000681057.1:n.2744-4791_2744-4790delinsAG
ENST00000681196.1:n.4259-4791_4259-4790delinsAG
ENST00000681301.1:c.3420_3421delinsAG	ENSP00000505093.1:p.Lys1140=
ENST00000681331.1:n.1302_1303delinsAG
ENST00000681332.1:n.4090_4091delinsAG
ENST00000681340.1:c.3573_3574delinsAG	ENSP00000505666.1:p.Lys1191=
ENST00000681365.1:c.3573_3574delinsAG	ENSP00000506604.1:p.Lys1191=
ENST00000681488.1:c.3442_3443delinsAG	ENSP00000505884.1:n.3442_3443delinsAG
ENST00000681522.1:c.3573_3574delinsAG	ENSP00000506005.1:p.Lys1191=
ENST00000681556.1:n.3707_3708delinsAG
ENST00000681718.1:c.*2060_*2061delinsAG	ENSP00000505266.1:n.*2060_*2061delinsAG
ENST00000681754.1:n.4261_4262delinsAG
ENST00000681828.1:c.5129_5130delinsAG	ENSP00000505608.1:n.5129_5130delinsAG
ENST00000681841.1:c.3573_3574delinsAG	ENSP00000504965.1:p.Lys1191=
ENST00000681860.1:c.3389_3390delinsAG	ENSP00000506250.1:n.3389_3390delinsAG
ENST00000265602.10:c.3573_3574delinsAG	ENSP00000265602.6:p.Lys1191=
ENST00000367799.6:c.1985-4791_1985-4790delinsAG
ENST00000367800.8:c.3573_3574delinsAG	ENSP00000356774.4:p.Lys1191=
ENST00000457866.6:c.3573_3574delinsAG	ENSP00000388650.2:p.Lys1191=
ENST00000475846.6:c.2003_2004delinsAG
ENST00000487135.1:n.155-4791_155-4790delinsAG
ENST00000498558.5:n.422_423delinsAG
ENST00000527681.1:c.182_183delinsAG
NM_001134830.1:c.3573_3574delinsAG	NP_001128302.1:p.Lys1191=
NM_001134831.1:c.3573_3574delinsAG	NP_001128303.1:p.Lys1191=
NM_017651.4:c.3573_3574delinsAG	NP_060121.3:p.Lys1191=
XM_011535910.1:c.3573_3574delinsAG	XP_011534212.1:p.Lys1191=
XM_011535911.1:c.3573_3574delinsAG	XP_011534213.1:p.Lys1191=
XM_011535915.1:c.3486-4791_3486-4790delinsAG	XP_011534217.1:n.3486-4791_3486-4790delinsAG
XR_942488.1:n.5415_5416delinsAG
XR_942490.1:n.5328-4791_5328-4790delinsAG
XR_942493.1:n.5276_5277delinsAG
XR_942494.1:n.5113_5114delinsAG
NM_001350503.1:c.3573_3574delinsAG	NP_001337432.1:p.Lys1191=
NM_001350504.1:c.3486-4791_3486-4790delinsAG	NP_001337433.1:n.3486-4791_3486-4790delinsAG
XM_011535910.3:c.3573_3574delinsAG	XP_011534212.1:p.Lys1191=
XM_011535911.3:c.3573_3574delinsAG	XP_011534213.1:p.Lys1191=
XM_017010980.2:c.*94_*95delinsAG	XP_016866469.1:n.*94_*95delinsAG
XM_017010981.2:c.3519_3520delinsAG	XP_016866470.1:p.Lys1173=
XM_024446479.1:c.3519_3520delinsAG	XP_024302247.1:p.Lys1173=
XR_001743479.2:n.5512_5513delinsAG
XR_001743480.2:n.4340_4341delinsAG
XR_001743481.2:n.4305_4306delinsAG
XR_001743482.2:n.4208_4209delinsAG
XR_001743483.2:n.5425-4791_5425-4790delinsAG
XR_001743484.2:n.5373_5374delinsAG
XR_001743485.2:n.4069_4070delinsAG
XR_001743486.2:n.5286-4791_5286-4790delinsAG
XR_001743487.2:n.5495_5496delinsAG
XR_001743488.1:n.5737_5738delinsAG
XR_001743489.2:n.5210_5211delinsAG
XR_001743490.2:n.4191_4192delinsAG
XR_002956286.1:n.3844_3845delinsAG
XR_002956287.1:n.3757-4791_3757-4790delinsAG
NM_001134831.2:c.3573_3574delinsAG MANE Select	NP_001128303.1:p.Lys1191=
NM_001134830.2:c.3573_3574delinsAG	NP_001128302.1:p.Lys1191=
NM_001350503.2:c.3573_3574delinsAG	NP_001337432.1:p.Lys1191=
NM_001350504.2:c.3486-4791_3486-4790delinsAG	NP_001337433.1:n.3486-4791_3486-4790delinsAG
NM_017651.5:c.3573_3574delinsAG	NP_060121.3:p.Lys1191=