Canonical Allele Identifier: CA1665910650

Gene: AHI1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135428592_135428593delinsCT , CM000668.2:g.135428592_135428593delinsCT	GRCh38
NC_000006.11:g.135749730_135749731delinsCT , CM000668.1:g.135749730_135749731delinsCT	GRCh37
NC_000006.10:g.135791423_135791424delinsCT	NCBI36
NG_008643.1:g.74173_74174delinsAG
NG_008643.2:g.74173_74174delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000265602.11:c.2623+36_2623+37delinsAG MANE Select	ENSP00000265602.6:n.2623+36_2623+37delinsAG
ENST00000367799.7:c.1675+36_1675+37delinsAG	ENSP00000356773.3:n.1675+36_1675+37delinsAG
ENST00000527681.2:c.296+36_296+37delinsAG
ENST00000679434.1:c.2808+36_2808+37delinsAG	ENSP00000505592.1:n.2808+36_2808+37delinsAG
ENST00000679450.1:c.2623+36_2623+37delinsAG	ENSP00000506494.1:n.2623+36_2623+37delinsAG
ENST00000679476.1:c.308+36_308+37delinsAG
ENST00000679589.1:c.*2651+36_*2651+37delinsAG	ENSP00000506644.1:n.*2651+36_*2651+37delinsAG
ENST00000679622.1:c.2623+36_2623+37delinsAG	ENSP00000506261.1:n.2623+36_2623+37delinsAG
ENST00000679668.1:c.2623+36_2623+37delinsAG	ENSP00000505364.1:n.2623+36_2623+37delinsAG
ENST00000679672.1:c.2623+36_2623+37delinsAG	ENSP00000505697.1:n.2623+36_2623+37delinsAG
ENST00000679711.1:c.795+36_795+37delinsAG
ENST00000679742.1:c.2623+36_2623+37delinsAG	ENSP00000504890.1:n.2623+36_2623+37delinsAG
ENST00000679890.1:n.1114+36_1114+37delinsAG
ENST00000679925.1:c.2623+36_2623+37delinsAG	ENSP00000505502.1:n.2623+36_2623+37delinsAG
ENST00000679943.1:c.2623+36_2623+37delinsAG	ENSP00000505663.1:n.2623+36_2623+37delinsAG
ENST00000680119.1:c.2578+36_2578+37delinsAG	ENSP00000506403.1:n.2578+36_2578+37delinsAG
ENST00000680184.1:c.2623+36_2623+37delinsAG	ENSP00000506009.1:n.2623+36_2623+37delinsAG
ENST00000680278.1:c.2808+36_2808+37delinsAG	ENSP00000506153.1:n.2808+36_2808+37delinsAG
ENST00000680337.1:c.122+36_122+37delinsAG
ENST00000680561.1:n.5366+36_5366+37delinsAG
ENST00000680656.1:c.2623+36_2623+37delinsAG	ENSP00000505297.1:n.2623+36_2623+37delinsAG
ENST00000680826.1:c.2808+36_2808+37delinsAG	ENSP00000505224.1:n.2808+36_2808+37delinsAG
ENST00000680840.1:c.2623+36_2623+37delinsAG	ENSP00000505809.1:n.2623+36_2623+37delinsAG
ENST00000680965.1:c.*77+36_*77+37delinsAG	ENSP00000505398.1:n.*77+36_*77+37delinsAG
ENST00000681022.1:c.2623+36_2623+37delinsAG	ENSP00000505121.1:n.2623+36_2623+37delinsAG
ENST00000681057.1:n.2079+36_2079+37delinsAG
ENST00000681301.1:c.2470+36_2470+37delinsAG	ENSP00000505093.1:n.2470+36_2470+37delinsAG
ENST00000681332.1:n.3140+36_3140+37delinsAG
ENST00000681340.1:c.2623+36_2623+37delinsAG	ENSP00000505666.1:n.2623+36_2623+37delinsAG
ENST00000681365.1:c.2623+36_2623+37delinsAG	ENSP00000506604.1:n.2623+36_2623+37delinsAG
ENST00000681477.1:c.*1410+36_*1410+37delinsAG	ENSP00000504989.1:n.*1410+36_*1410+37delinsAG
ENST00000681488.1:c.2493-1286_2493-1285delinsAG	ENSP00000505884.1:n.2493-1286_2493-1285delinsAG
ENST00000681522.1:c.2623+36_2623+37delinsAG	ENSP00000506005.1:n.2623+36_2623+37delinsAG
ENST00000681670.1:c.2623+36_2623+37delinsAG	ENSP00000504895.1:n.2623+36_2623+37delinsAG
ENST00000681718.1:c.2623+36_2623+37delinsAG	ENSP00000505266.1:n.2623+36_2623+37delinsAG
ENST00000681756.1:c.2623+36_2623+37delinsAG	ENSP00000506505.1:n.2623+36_2623+37delinsAG
ENST00000681828.1:c.2623+36_2623+37delinsAG	ENSP00000505608.1:n.2623+36_2623+37delinsAG
ENST00000681841.1:c.2623+36_2623+37delinsAG	ENSP00000504965.1:n.2623+36_2623+37delinsAG
ENST00000681860.1:c.2114+36_2114+37delinsAG	ENSP00000506250.1:n.2114+36_2114+37delinsAG
ENST00000681945.1:n.3091+36_3091+37delinsAG
ENST00000265602.10:c.2623+36_2623+37delinsAG	ENSP00000265602.6:n.2623+36_2623+37delinsAG
ENST00000327035.10:c.2623+36_2623+37delinsAG	ENSP00000322478.6:n.2623+36_2623+37delinsAG
ENST00000367799.6:c.1122+36_1122+37delinsAG
ENST00000367800.8:c.2623+36_2623+37delinsAG	ENSP00000356774.4:n.2623+36_2623+37delinsAG
ENST00000457866.6:c.2623+36_2623+37delinsAG	ENSP00000388650.2:n.2623+36_2623+37delinsAG
ENST00000475846.6:c.815+36_815+37delinsAG
ENST00000531788.5:c.*826+36_*826+37delinsAG	ENSP00000432167.1:n.*826+36_*826+37delinsAG
NM_001134830.1:c.2623+36_2623+37delinsAG	NP_001128302.1:n.2623+36_2623+37delinsAG
NM_001134831.1:c.2623+36_2623+37delinsAG	NP_001128303.1:n.2623+36_2623+37delinsAG
NM_001134832.1:c.2623+36_2623+37delinsAG	NP_001128304.1:n.2623+36_2623+37delinsAG
NM_017651.4:c.2623+36_2623+37delinsAG	NP_060121.3:n.2623+36_2623+37delinsAG
XM_011535910.1:c.2623+36_2623+37delinsAG	XP_011534212.1:n.2623+36_2623+37delinsAG
XM_011535911.1:c.2623+36_2623+37delinsAG	XP_011534213.1:n.2623+36_2623+37delinsAG
XM_011535912.1:c.2623+36_2623+37delinsAG	XP_011534214.1:n.2623+36_2623+37delinsAG
XM_011535913.1:c.2623+36_2623+37delinsAG	XP_011534215.1:n.2623+36_2623+37delinsAG
XM_011535914.1:c.2623+36_2623+37delinsAG	XP_011534216.1:n.2623+36_2623+37delinsAG
XM_011535915.1:c.2623+36_2623+37delinsAG	XP_011534217.1:n.2623+36_2623+37delinsAG
XM_011535916.1:c.2623+36_2623+37delinsAG	XP_011534218.1:n.2623+36_2623+37delinsAG
XR_942488.1:n.2916+36_2916+37delinsAG
XR_942489.1:n.2916+36_2916+37delinsAG
XR_942490.1:n.2916+36_2916+37delinsAG
XR_942491.1:n.2916+36_2916+37delinsAG
XR_942493.1:n.2916+36_2916+37delinsAG
XR_942494.1:n.2916+36_2916+37delinsAG
XR_942495.1:n.2916+36_2916+37delinsAG
NM_001350503.1:c.2623+36_2623+37delinsAG	NP_001337432.1:n.2623+36_2623+37delinsAG
NM_001350504.1:c.2623+36_2623+37delinsAG	NP_001337433.1:n.2623+36_2623+37delinsAG
XM_011535910.3:c.2623+36_2623+37delinsAG	XP_011534212.1:n.2623+36_2623+37delinsAG
XM_011535911.3:c.2623+36_2623+37delinsAG	XP_011534213.1:n.2623+36_2623+37delinsAG
XM_017010978.2:c.2623+36_2623+37delinsAG	XP_016866467.1:n.2623+36_2623+37delinsAG
XM_017010979.2:c.2623+36_2623+37delinsAG	XP_016866468.1:n.2623+36_2623+37delinsAG
XM_017010980.2:c.2623+36_2623+37delinsAG	XP_016866469.1:n.2623+36_2623+37delinsAG
XM_017010981.2:c.2569+36_2569+37delinsAG	XP_016866470.1:n.2569+36_2569+37delinsAG
XM_017010984.2:c.2623+36_2623+37delinsAG	XP_016866473.1:n.2623+36_2623+37delinsAG
XM_024446479.1:c.2569+36_2569+37delinsAG	XP_024302247.1:n.2569+36_2569+37delinsAG
XM_024446480.1:c.2623+36_2623+37delinsAG	XP_024302248.1:n.2623+36_2623+37delinsAG
XR_001743479.2:n.3013+36_3013+37delinsAG
XR_001743480.2:n.3013+36_3013+37delinsAG
XR_001743481.2:n.3013+36_3013+37delinsAG
XR_001743482.2:n.3013+36_3013+37delinsAG
XR_001743483.2:n.3013+36_3013+37delinsAG
XR_001743484.2:n.3013+36_3013+37delinsAG
XR_001743485.2:n.3013+36_3013+37delinsAG
XR_001743486.2:n.3013+36_3013+37delinsAG
XR_001743487.2:n.3013+36_3013+37delinsAG
XR_001743488.1:n.3255+36_3255+37delinsAG
XR_001743489.2:n.3013+36_3013+37delinsAG
XR_001743490.2:n.3013+36_3013+37delinsAG
XR_002956286.1:n.2894+36_2894+37delinsAG
XR_002956287.1:n.2894+36_2894+37delinsAG
NM_001134831.2:c.2623+36_2623+37delinsAG MANE Select	NP_001128303.1:n.2623+36_2623+37delinsAG
NM_001134830.2:c.2623+36_2623+37delinsAG	NP_001128302.1:n.2623+36_2623+37delinsAG
NM_001134832.2:c.2623+36_2623+37delinsAG	NP_001128304.1:n.2623+36_2623+37delinsAG
NM_001350503.2:c.2623+36_2623+37delinsAG	NP_001337432.1:n.2623+36_2623+37delinsAG
NM_001350504.2:c.2623+36_2623+37delinsAG	NP_001337433.1:n.2623+36_2623+37delinsAG
NM_017651.5:c.2623+36_2623+37delinsAG	NP_060121.3:n.2623+36_2623+37delinsAG