Canonical Allele Identifier: CA270783
Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156383
ClinVar RCV Id: RCV000144465
dbSNP Id: rs587783014

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135428652_135428658del , CM000668.2:g.135428652_135428658del GRCh38
NC_000006.11:g.135749790_135749796del , CM000668.1:g.135749790_135749796del GRCh37
NC_000006.10:g.135791483_135791489del NCBI36
NG_008643.1:g.74112_74118del
NG_008643.2:g.74112_74118del

Transcript Alleles

HGVS Amino-acid change
ENST00000265602.11:c.2598_2604del MANE Select ENSP00000265602.6:p.Ile866MetfsTer11
ENST00000367799.7:n.1650_1656del ENSP00000356773.3:p.Ile550MetfsTer11
ENST00000527681.2:n.271_277del
ENST00000679434.1:n.2783_2789del ENSP00000505592.1:n.2783_2789del
ENST00000679450.1:n.2598_2604del ENSP00000506494.1:p.Ile866MetfsTer11
ENST00000679476.1:n.283_289del
ENST00000679589.1:c.*2626_*2632del ENSP00000506644.1:n.*2626_*2632del
ENST00000679622.1:c.2598_2604del ENSP00000506261.1:p.Ile866MetfsTer11
ENST00000679668.1:n.2598_2604del ENSP00000505364.1:p.Ile866MetfsTer11
ENST00000679672.1:c.2598_2604del ENSP00000505697.1:p.Ile866MetfsTer11
ENST00000679711.1:n.770_776del
ENST00000679742.1:n.2598_2604del ENSP00000504890.1:p.Ile866MetfsTer11
ENST00000679890.1:n.1089_1095del
ENST00000679925.1:c.2598_2604del ENSP00000505502.1:p.Ile866MetfsTer11
ENST00000679943.1:n.2598_2604del ENSP00000505663.1:p.Ile866MetfsTer11
ENST00000680119.1:n.2553_2559del ENSP00000506403.1:n.2553_2559del
ENST00000680184.1:c.2598_2604del ENSP00000506009.1:p.Ile866MetfsTer11
ENST00000680278.1:n.2783_2789del ENSP00000506153.1:n.2783_2789del
ENST00000680337.1:n.97_103del
ENST00000680561.1:n.5341_5347del
ENST00000680656.1:c.2598_2604del ENSP00000505297.1:p.Ile866MetfsTer11
ENST00000680826.1:n.2783_2789del ENSP00000505224.1:n.2783_2789del
ENST00000680840.1:n.2598_2604del ENSP00000505809.1:p.Ile866MetfsTer11
ENST00000680965.1:c.*52_*58del ENSP00000505398.1:n.*52_*58del
ENST00000681022.1:c.2598_2604del ENSP00000505121.1:p.Ile866MetfsTer11
ENST00000681057.1:n.2054_2060del
ENST00000681301.1:n.2445_2451del ENSP00000505093.1:p.Ile815MetfsTer11
ENST00000681332.1:n.3115_3121del
ENST00000681340.1:c.2598_2604del ENSP00000505666.1:p.Ile866MetfsTer11
ENST00000681365.1:c.2598_2604del ENSP00000506604.1:p.Ile866MetfsTer11
ENST00000681477.1:c.*1385_*1391del ENSP00000504989.1:n.*1385_*1391del
ENST00000681488.1:n.2492+1228_2492+1234del ENSP00000505884.1:n.2492+1228_2492+1234de...
ENST00000681522.1:c.2598_2604del ENSP00000506005.1:p.Ile866MetfsTer11
ENST00000681670.1:c.2598_2604del ENSP00000504895.1:p.Ile866MetfsTer11
ENST00000681718.1:c.2598_2604del ENSP00000505266.1:p.Ile866MetfsTer11
ENST00000681756.1:c.2598_2604del ENSP00000506505.1:p.Ile866MetfsTer11
ENST00000681828.1:n.2598_2604del ENSP00000505608.1:p.Ile866MetfsTer11
ENST00000681841.1:c.2598_2604del ENSP00000504965.1:p.Ile866MetfsTer11
ENST00000681860.1:n.2089_2095del ENSP00000506250.1:n.2089_2095del
ENST00000681945.1:n.3066_3072del
ENST00000265602.10:c.2598_2604del ENSP00000265602.6:p.Ile866MetfsTer11
ENST00000327035.10:c.2598_2604del ENSP00000322478.6:p.Ile866MetfsTer11
ENST00000367799.6:n.1097_1103del
ENST00000367800.8:c.2598_2604del ENSP00000356774.4:p.Ile866MetfsTer11
ENST00000457866.6:c.2598_2604del ENSP00000388650.2:p.Ile866MetfsTer11
ENST00000475846.6:n.790_796del
ENST00000531788.5:c.*801_*807del ENSP00000432167.1:n.*801_*807del
NM_001134830.1:c.2598_2604del NP_001128302.1:p.Ile866MetfsTer11
NM_001134831.1:c.2598_2604del NP_001128303.1:p.Ile866MetfsTer11
NM_001134832.1:c.2598_2604del NP_001128304.1:p.Ile866MetfsTer11
NM_017651.4:c.2598_2604del NP_060121.3:p.Ile866MetfsTer11
XM_011535910.1:c.2598_2604del XP_011534212.1:p.Ile866MetfsTer11
XM_011535911.1:c.2598_2604del XP_011534213.1:p.Ile866MetfsTer11
XM_011535912.1:c.2598_2604del XP_011534214.1:p.Ile866MetfsTer11
XM_011535913.1:c.2598_2604del XP_011534215.1:p.Ile866MetfsTer11
XM_011535914.1:c.2598_2604del XP_011534216.1:p.Ile866MetfsTer11
XM_011535915.1:c.2598_2604del XP_011534217.1:p.Ile866MetfsTer11
XM_011535916.1:c.2598_2604del XP_011534218.1:p.Ile866MetfsTer11
XR_942488.1:n.2891_2897del
XR_942489.1:n.2891_2897del
XR_942490.1:n.2891_2897del
XR_942491.1:n.2891_2897del
XR_942493.1:n.2891_2897del
XR_942494.1:n.2891_2897del
XR_942495.1:n.2891_2897del
NM_001350503.1:c.2598_2604del NP_001337432.1:p.Ile866MetfsTer11
NM_001350504.1:c.2598_2604del NP_001337433.1:p.Ile866MetfsTer11
XM_011535910.3:c.2598_2604del XP_011534212.1:p.Ile866MetfsTer11
XM_011535911.3:c.2598_2604del XP_011534213.1:p.Ile866MetfsTer11
XM_017010978.2:c.2598_2604del XP_016866467.1:p.Ile866MetfsTer11
XM_017010979.2:c.2598_2604del XP_016866468.1:p.Ile866MetfsTer11
XM_017010980.2:c.2598_2604del XP_016866469.1:p.Ile866MetfsTer11
XM_017010981.2:c.2544_2550del XP_016866470.1:p.Ile848MetfsTer11
XM_017010984.2:c.2598_2604del XP_016866473.1:p.Ile866MetfsTer11
XM_024446479.1:c.2544_2550del XP_024302247.1:p.Ile848MetfsTer11
XM_024446480.1:c.2598_2604del XP_024302248.1:p.Ile866MetfsTer11
XR_001743479.2:n.2988_2994del
XR_001743480.2:n.2988_2994del
XR_001743481.2:n.2988_2994del
XR_001743482.2:n.2988_2994del
XR_001743483.2:n.2988_2994del
XR_001743484.2:n.2988_2994del
XR_001743485.2:n.2988_2994del
XR_001743486.2:n.2988_2994del
XR_001743487.2:n.2988_2994del
XR_001743488.1:n.3230_3236del
XR_001743489.2:n.2988_2994del
XR_001743490.2:n.2988_2994del
XR_002956286.1:n.2869_2875del
XR_002956287.1:n.2869_2875del
NM_001134831.2:c.2598_2604del MANE Select NP_001128303.1:p.Ile866MetfsTer11
NM_001134830.2:c.2598_2604del NP_001128302.1:p.Ile866MetfsTer11
NM_001134832.2:c.2598_2604del NP_001128304.1:p.Ile866MetfsTer11
NM_001350503.2:c.2598_2604del NP_001337432.1:p.Ile866MetfsTer11
NM_001350504.2:c.2598_2604del NP_001337433.1:p.Ile866MetfsTer11
NM_017651.5:c.2598_2604del NP_060121.3:p.Ile866MetfsTer11