Canonical Allele Identifier: CA1665857918
Gene: AHI1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135321494_135321495delinsTG , CM000668.2:g.135321494_135321495delinsTG GRCh38
NC_000006.11:g.135642632_135642633delinsTG , CM000668.1:g.135642632_135642633delinsTG GRCh37
NC_000006.10:g.135684325_135684326delinsTG NCBI36
NG_008643.1:g.181271_181272delinsCA
NG_008643.2:g.181271_181272delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265602.11:c.3328+1667_3328+1668delinsCA MANE Select ENSP00000265602.6:n.3328+1667_3328+1668delinsCA
ENST00000367799.7:c.2380+1667_2380+1668delinsCA ENSP00000356773.3:n.2380+1667_2380+1668delinsCA
ENST00000527681.2:c.997+1667_997+1668delinsCA
ENST00000679434.1:c.3513+1667_3513+1668delinsCA ENSP00000505592.1:n.3513+1667_3513+1668delinsCA
ENST00000679450.1:c.3166-20937_3166-20936delinsCA ENSP00000506494.1:n.3166-20937_3166-20936delinsCA
ENST00000679476.1:c.1257+1667_1257+1668delinsCA
ENST00000679589.1:c.*3356+1667_*3356+1668delinsCA ENSP00000506644.1:n.*3356+1667_*3356+1668delinsCA
ENST00000679622.1:c.*255+1667_*255+1668delinsCA ENSP00000506261.1:n.*255+1667_*255+1668delinsCA
ENST00000679668.1:c.3450+1667_3450+1668delinsCA ENSP00000505364.1:n.3450+1667_3450+1668delinsCA
ENST00000679672.1:c.3328+1667_3328+1668delinsCA ENSP00000505697.1:n.3328+1667_3328+1668delinsCA
ENST00000679711.1:c.1622+1667_1622+1668delinsCA
ENST00000679742.1:c.3328+1667_3328+1668delinsCA ENSP00000504890.1:n.3328+1667_3328+1668delinsCA
ENST00000679890.1:n.1819+1667_1819+1668delinsCA
ENST00000679925.1:c.3328+1667_3328+1668delinsCA ENSP00000505502.1:n.3328+1667_3328+1668delinsCA
ENST00000679943.1:c.3328+1667_3328+1668delinsCA ENSP00000505663.1:n.3328+1667_3328+1668delinsCA
ENST00000680071.1:n.1842+1667_1842+1668delinsCA
ENST00000680119.1:c.3405+1667_3405+1668delinsCA ENSP00000506403.1:n.3405+1667_3405+1668delinsCA
ENST00000680157.1:n.1842+1667_1842+1668delinsCA
ENST00000680184.1:c.*117+1667_*117+1668delinsCA ENSP00000506009.1:n.*117+1667_*117+1668delinsCA
ENST00000680278.1:c.3800+1667_3800+1668delinsCA ENSP00000506153.1:n.3800+1667_3800+1668delinsCA
ENST00000680337.1:c.787-2879_787-2878delinsCA
ENST00000680561.1:n.6071+1667_6071+1668delinsCA
ENST00000680656.1:c.*405+1667_*405+1668delinsCA ENSP00000505297.1:n.*405+1667_*405+1668delinsCA
ENST00000680826.1:c.3513+1667_3513+1668delinsCA ENSP00000505224.1:n.3513+1667_3513+1668delinsCA
ENST00000680840.1:c.3450+1667_3450+1668delinsCA ENSP00000505809.1:n.3450+1667_3450+1668delinsCA
ENST00000680965.1:c.*782+1667_*782+1668delinsCA ENSP00000505398.1:n.*782+1667_*782+1668delinsCA
ENST00000681022.1:c.3328+1667_3328+1668delinsCA ENSP00000505121.1:n.3328+1667_3328+1668delinsCA
ENST00000681057.1:n.2744-35848_2744-35847delinsCA
ENST00000681196.1:n.1842+1667_1842+1668delinsCA
ENST00000681301.1:c.3175+1667_3175+1668delinsCA ENSP00000505093.1:n.3175+1667_3175+1668delinsCA
ENST00000681331.1:n.1057+1667_1057+1668delinsCA
ENST00000681332.1:n.3845+1667_3845+1668delinsCA
ENST00000681340.1:c.3328+1667_3328+1668delinsCA ENSP00000505666.1:n.3328+1667_3328+1668delinsCA
ENST00000681365.1:c.3328+1667_3328+1668delinsCA ENSP00000506604.1:n.3328+1667_3328+1668delinsCA
ENST00000681488.1:c.3197+1667_3197+1668delinsCA ENSP00000505884.1:n.3197+1667_3197+1668delinsCA
ENST00000681522.1:c.3328+1667_3328+1668delinsCA ENSP00000506005.1:n.3328+1667_3328+1668delinsCA
ENST00000681670.1:c.3328+1667_3328+1668delinsCA ENSP00000504895.1:n.3328+1667_3328+1668delinsCA
ENST00000681718.1:c.*405+1667_*405+1668delinsCA ENSP00000505266.1:n.*405+1667_*405+1668delinsCA
ENST00000681756.1:c.3328+1667_3328+1668delinsCA ENSP00000506505.1:n.3328+1667_3328+1668delinsCA
ENST00000681828.1:c.3450+1667_3450+1668delinsCA ENSP00000505608.1:n.3450+1667_3450+1668delinsCA
ENST00000681841.1:c.3328+1667_3328+1668delinsCA ENSP00000504965.1:n.3328+1667_3328+1668delinsCA
ENST00000681860.1:c.2941+1667_2941+1668delinsCA ENSP00000506250.1:n.2941+1667_2941+1668delinsCA
ENST00000265602.10:c.3328+1667_3328+1668delinsCA ENSP00000265602.6:n.3328+1667_3328+1668delinsCA
ENST00000367799.6:c.1827+1667_1827+1668delinsCA
ENST00000367800.8:c.3328+1667_3328+1668delinsCA ENSP00000356774.4:n.3328+1667_3328+1668delinsCA
ENST00000457866.6:c.3328+1667_3328+1668delinsCA ENSP00000388650.2:n.3328+1667_3328+1668delinsCA
ENST00000475846.6:c.1520+1667_1520+1668delinsCA
ENST00000531788.5:c.*1369-2879_*1369-2878delinsCA ENSP00000432167.1:n.*1369-2879_*1369-2878delinsCA
ENST00000533029.1:n.218+1667_218+1668delinsCA
NM_001134830.1:c.3328+1667_3328+1668delinsCA NP_001128302.1:n.3328+1667_3328+1668delinsCA
NM_001134831.1:c.3328+1667_3328+1668delinsCA NP_001128303.1:n.3328+1667_3328+1668delinsCA
NM_017651.4:c.3328+1667_3328+1668delinsCA NP_060121.3:n.3328+1667_3328+1668delinsCA
XM_011535910.1:c.3328+1667_3328+1668delinsCA XP_011534212.1:n.3328+1667_3328+1668delinsCA
XM_011535911.1:c.3328+1667_3328+1668delinsCA XP_011534213.1:n.3328+1667_3328+1668delinsCA
XM_011535912.1:c.3328+1667_3328+1668delinsCA XP_011534214.1:n.3328+1667_3328+1668delinsCA
XM_011535913.1:c.3328+1667_3328+1668delinsCA XP_011534215.1:n.3328+1667_3328+1668delinsCA
XM_011535914.1:c.3328+1667_3328+1668delinsCA XP_011534216.1:n.3328+1667_3328+1668delinsCA
XM_011535915.1:c.3328+1667_3328+1668delinsCA XP_011534217.1:n.3328+1667_3328+1668delinsCA
XM_011535916.1:c.3166-2879_3166-2878delinsCA XP_011534218.1:n.3166-2879_3166-2878delinsCA
XR_942488.1:n.3621+1667_3621+1668delinsCA
XR_942489.1:n.3621+1667_3621+1668delinsCA
XR_942490.1:n.3621+1667_3621+1668delinsCA
XR_942491.1:n.3621+1667_3621+1668delinsCA
XR_942493.1:n.3621+1667_3621+1668delinsCA
XR_942494.1:n.3459-2879_3459-2878delinsCA
NM_001350503.1:c.3328+1667_3328+1668delinsCA NP_001337432.1:n.3328+1667_3328+1668delinsCA
NM_001350504.1:c.3328+1667_3328+1668delinsCA NP_001337433.1:n.3328+1667_3328+1668delinsCA
XM_011535910.3:c.3328+1667_3328+1668delinsCA XP_011534212.1:n.3328+1667_3328+1668delinsCA
XM_011535911.3:c.3328+1667_3328+1668delinsCA XP_011534213.1:n.3328+1667_3328+1668delinsCA
XM_017010978.2:c.3328+1667_3328+1668delinsCA XP_016866467.1:n.3328+1667_3328+1668delinsCA
XM_017010979.2:c.3328+1667_3328+1668delinsCA XP_016866468.1:n.3328+1667_3328+1668delinsCA
XM_017010980.2:c.3328+1667_3328+1668delinsCA XP_016866469.1:n.3328+1667_3328+1668delinsCA
XM_017010981.2:c.3274+1667_3274+1668delinsCA XP_016866470.1:n.3274+1667_3274+1668delinsCA
XM_024446479.1:c.3274+1667_3274+1668delinsCA XP_024302247.1:n.3274+1667_3274+1668delinsCA
XM_024446480.1:c.3166-2879_3166-2878delinsCA XP_024302248.1:n.3166-2879_3166-2878delinsCA
XR_001743479.2:n.3718+1667_3718+1668delinsCA
XR_001743480.2:n.3718+1667_3718+1668delinsCA
XR_001743481.2:n.3718+1667_3718+1668delinsCA
XR_001743482.2:n.3718+1667_3718+1668delinsCA
XR_001743483.2:n.3718+1667_3718+1668delinsCA
XR_001743484.2:n.3718+1667_3718+1668delinsCA
XR_001743485.2:n.3718+1667_3718+1668delinsCA
XR_001743486.2:n.3718+1667_3718+1668delinsCA
XR_001743487.2:n.3840+1667_3840+1668delinsCA
XR_001743488.1:n.4082+1667_4082+1668delinsCA
XR_001743489.2:n.3556-2879_3556-2878delinsCA
XR_001743490.2:n.3840+1667_3840+1668delinsCA
XR_002956286.1:n.3599+1667_3599+1668delinsCA
XR_002956287.1:n.3599+1667_3599+1668delinsCA
NM_001134831.2:c.3328+1667_3328+1668delinsCA MANE Select NP_001128303.1:n.3328+1667_3328+1668delinsCA
NM_001134830.2:c.3328+1667_3328+1668delinsCA NP_001128302.1:n.3328+1667_3328+1668delinsCA
NM_001350503.2:c.3328+1667_3328+1668delinsCA NP_001337432.1:n.3328+1667_3328+1668delinsCA
NM_001350504.2:c.3328+1667_3328+1668delinsCA NP_001337433.1:n.3328+1667_3328+1668delinsCA
NM_017651.5:c.3328+1667_3328+1668delinsCA NP_060121.3:n.3328+1667_3328+1668delinsCA
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