Canonical Allele Identifier: CA1665838937

Gene: AHI1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290509_135290510delinsCT , CM000668.2:g.135290509_135290510delinsCT	GRCh38
NC_000006.11:g.135611647_135611648delinsCT , CM000668.1:g.135611647_135611648delinsCT	GRCh37
NC_000006.10:g.135653340_135653341delinsCT	NCBI36
NG_008643.1:g.212256_212257delinsAG
NG_008643.2:g.212256_212257delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3501_3502delinsAG MANE Select	ENSP00000265602.6:p.Lys1167=
ENST00000498558.6:n.542_543delinsAG
ENST00000527681.2:c.1170_1171delinsAG
ENST00000679434.1:c.5117_5118delinsAG	ENSP00000505592.1:n.5117_5118delinsAG
ENST00000679450.1:c.3240_3241delinsAG	ENSP00000506494.1:p.Lys1080=
ENST00000679490.1:n.2876_2877delinsAG
ENST00000679502.1:n.2361-4863_2361-4862delinsAG
ENST00000679589.1:c.*3529_*3530delinsAG	ENSP00000506644.1:n.*3529_*3530delinsAG
ENST00000679668.1:c.5033_5034delinsAG	ENSP00000505364.1:n.5033_5034delinsAG
ENST00000679672.1:c.*1476_*1477delinsAG	ENSP00000505697.1:n.*1476_*1477delinsAG
ENST00000679711.1:c.1795_1796delinsAG
ENST00000679742.1:c.4896-4863_4896-4862delinsAG	ENSP00000504890.1:n.4896-4863_4896-4862delinsAG
ENST00000679890.1:n.1992_1993delinsAG
ENST00000679925.1:c.3486-4863_3486-4862delinsAG	ENSP00000505502.1:n.3486-4863_3486-4862delinsAG
ENST00000679943.1:c.3562_3563delinsAG	ENSP00000505663.1:n.3562_3563delinsAG
ENST00000680071.1:n.4274_4275delinsAG
ENST00000680119.1:c.3726_3727delinsAG	ENSP00000506403.1:n.3726_3727delinsAG
ENST00000680328.1:n.610_611delinsAG
ENST00000680337.1:c.944-4863_944-4862delinsAG
ENST00000680561.1:n.6229-4863_6229-4862delinsAG
ENST00000680826.1:c.3686_3687delinsAG	ENSP00000505224.1:n.3686_3687delinsAG
ENST00000680840.1:c.3729_3730delinsAG	ENSP00000505809.1:n.3729_3730delinsAG
ENST00000680965.1:c.*955_*956delinsAG	ENSP00000505398.1:n.*955_*956delinsAG
ENST00000681022.1:c.3501_3502delinsAG	ENSP00000505121.1:p.Lys1167=
ENST00000681057.1:n.2744-4863_2744-4862delinsAG
ENST00000681196.1:n.4259-4863_4259-4862delinsAG
ENST00000681301.1:c.3348_3349delinsAG	ENSP00000505093.1:p.Lys1116=
ENST00000681331.1:n.1230_1231delinsAG
ENST00000681332.1:n.4018_4019delinsAG
ENST00000681340.1:c.3501_3502delinsAG	ENSP00000505666.1:p.Lys1167=
ENST00000681365.1:c.3501_3502delinsAG	ENSP00000506604.1:p.Lys1167=
ENST00000681488.1:c.3370_3371delinsAG	ENSP00000505884.1:n.3370_3371delinsAG
ENST00000681522.1:c.3501_3502delinsAG	ENSP00000506005.1:p.Lys1167=
ENST00000681556.1:n.3635_3636delinsAG
ENST00000681718.1:c.*1988_*1989delinsAG	ENSP00000505266.1:n.*1988_*1989delinsAG
ENST00000681754.1:n.4189_4190delinsAG
ENST00000681828.1:c.5057_5058delinsAG	ENSP00000505608.1:n.5057_5058delinsAG
ENST00000681841.1:c.3501_3502delinsAG	ENSP00000504965.1:p.Lys1167=
ENST00000681860.1:c.3317_3318delinsAG	ENSP00000506250.1:n.3317_3318delinsAG
ENST00000265602.10:c.3501_3502delinsAG	ENSP00000265602.6:p.Lys1167=
ENST00000367799.6:c.1985-4863_1985-4862delinsAG
ENST00000367800.8:c.3501_3502delinsAG	ENSP00000356774.4:p.Lys1167=
ENST00000457866.6:c.3501_3502delinsAG	ENSP00000388650.2:p.Lys1167=
ENST00000475846.6:c.1931_1932delinsAG
ENST00000487135.1:n.155-4863_155-4862delinsAG
ENST00000498558.5:n.350_351delinsAG
ENST00000527681.1:c.110_111delinsAG
NM_001134830.1:c.3501_3502delinsAG	NP_001128302.1:p.Lys1167=
NM_001134831.1:c.3501_3502delinsAG	NP_001128303.1:p.Lys1167=
NM_017651.4:c.3501_3502delinsAG	NP_060121.3:p.Lys1167=
XM_011535910.1:c.3501_3502delinsAG	XP_011534212.1:p.Lys1167=
XM_011535911.1:c.3501_3502delinsAG	XP_011534213.1:p.Lys1167=
XM_011535914.1:c.*22_*23delinsAG	XP_011534216.1:n.*22_*23delinsAG
XM_011535915.1:c.3486-4863_3486-4862delinsAG	XP_011534217.1:n.3486-4863_3486-4862delinsAG
XR_942488.1:n.5343_5344delinsAG
XR_942490.1:n.5328-4863_5328-4862delinsAG
XR_942493.1:n.5204_5205delinsAG
XR_942494.1:n.5041_5042delinsAG
NM_001350503.1:c.3501_3502delinsAG	NP_001337432.1:p.Lys1167=
NM_001350504.1:c.3486-4863_3486-4862delinsAG	NP_001337433.1:n.3486-4863_3486-4862delinsAG
XM_011535910.3:c.3501_3502delinsAG	XP_011534212.1:p.Lys1167=
XM_011535911.3:c.3501_3502delinsAG	XP_011534213.1:p.Lys1167=
XM_017010980.2:c.*22_*23delinsAG	XP_016866469.1:n.*22_*23delinsAG
XM_017010981.2:c.3447_3448delinsAG	XP_016866470.1:p.Lys1149=
XM_024446479.1:c.3447_3448delinsAG	XP_024302247.1:p.Lys1149=
XR_001743479.2:n.5440_5441delinsAG
XR_001743480.2:n.4268_4269delinsAG
XR_001743481.2:n.4233_4234delinsAG
XR_001743482.2:n.4136_4137delinsAG
XR_001743483.2:n.5425-4863_5425-4862delinsAG
XR_001743484.2:n.5301_5302delinsAG
XR_001743485.2:n.3997_3998delinsAG
XR_001743486.2:n.5286-4863_5286-4862delinsAG
XR_001743487.2:n.5423_5424delinsAG
XR_001743488.1:n.5665_5666delinsAG
XR_001743489.2:n.5138_5139delinsAG
XR_001743490.2:n.4119_4120delinsAG
XR_002956286.1:n.3772_3773delinsAG
XR_002956287.1:n.3757-4863_3757-4862delinsAG
NM_001134831.2:c.3501_3502delinsAG MANE Select	NP_001128303.1:p.Lys1167=
NM_001134830.2:c.3501_3502delinsAG	NP_001128302.1:p.Lys1167=
NM_001350503.2:c.3501_3502delinsAG	NP_001337432.1:p.Lys1167=
NM_001350504.2:c.3486-4863_3486-4862delinsAG	NP_001337433.1:n.3486-4863_3486-4862delinsAG
NM_017651.5:c.3501_3502delinsAG	NP_060121.3:p.Lys1167=