Canonical Allele Identifier: CA1665838952

Gene: AHI1

Linked Data

• dbSNP Id: rs1782209821

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290516_135290517del , CM000668.2:g.135290516_135290517del	GRCh38
NC_000006.11:g.135611654_135611655del , CM000668.1:g.135611654_135611655del	GRCh37
NC_000006.10:g.135653347_135653348del	NCBI36
NG_008643.1:g.212249_212250del
NG_008643.2:g.212249_212250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3494_3495del MANE Select	ENSP00000265602.6:p.Met1165LysfsTer7
ENST00000498558.6:n.535_536del
ENST00000527681.2:c.1163_1164del
ENST00000679434.1:c.5110_5111del	ENSP00000505592.1:n.5110_5111del
ENST00000679450.1:c.3233_3234del	ENSP00000506494.1:p.Met1078LysfsTer7
ENST00000679490.1:n.2869_2870del
ENST00000679502.1:n.2361-4870_2361-4869del
ENST00000679589.1:c.*3522_*3523del	ENSP00000506644.1:n.*3522_*3523del
ENST00000679668.1:c.5026_5027del	ENSP00000505364.1:n.5026_5027del
ENST00000679672.1:c.*1469_*1470del	ENSP00000505697.1:n.*1469_*1470del
ENST00000679711.1:c.1788_1789del
ENST00000679742.1:c.4896-4870_4896-4869del	ENSP00000504890.1:n.4896-4870_4896-4869del
ENST00000679890.1:n.1985_1986del
ENST00000679925.1:c.3486-4870_3486-4869del	ENSP00000505502.1:n.3486-4870_3486-4869del
ENST00000679943.1:c.3555_3556del	ENSP00000505663.1:n.3555_3556del
ENST00000680071.1:n.4267_4268del
ENST00000680119.1:c.3719_3720del	ENSP00000506403.1:n.3719_3720del
ENST00000680328.1:n.603_604del
ENST00000680337.1:c.944-4870_944-4869del
ENST00000680561.1:n.6229-4870_6229-4869del
ENST00000680826.1:c.3679_3680del	ENSP00000505224.1:n.3679_3680del
ENST00000680840.1:c.3722_3723del	ENSP00000505809.1:n.3722_3723del
ENST00000680965.1:c.*948_*949del	ENSP00000505398.1:n.*948_*949del
ENST00000681022.1:c.3494_3495del	ENSP00000505121.1:p.Met1165LysfsTer7
ENST00000681057.1:n.2744-4870_2744-4869del
ENST00000681196.1:n.4259-4870_4259-4869del
ENST00000681301.1:c.3341_3342del	ENSP00000505093.1:p.Met1114LysfsTer7
ENST00000681331.1:n.1223_1224del
ENST00000681332.1:n.4011_4012del
ENST00000681340.1:c.3494_3495del	ENSP00000505666.1:p.Met1165LysfsTer7
ENST00000681365.1:c.3494_3495del	ENSP00000506604.1:p.Met1165LysfsTer7
ENST00000681488.1:c.3363_3364del	ENSP00000505884.1:n.3363_3364del
ENST00000681522.1:c.3494_3495del	ENSP00000506005.1:p.Met1165LysfsTer7
ENST00000681556.1:n.3628_3629del
ENST00000681718.1:c.*1981_*1982del	ENSP00000505266.1:n.*1981_*1982del
ENST00000681754.1:n.4182_4183del
ENST00000681828.1:c.5050_5051del	ENSP00000505608.1:n.5050_5051del
ENST00000681841.1:c.3494_3495del	ENSP00000504965.1:p.Met1165LysfsTer7
ENST00000681860.1:c.3310_3311del	ENSP00000506250.1:n.3310_3311del
ENST00000265602.10:c.3494_3495del	ENSP00000265602.6:p.Met1165LysfsTer7
ENST00000367799.6:c.1985-4870_1985-4869del
ENST00000367800.8:c.3494_3495del	ENSP00000356774.4:p.Met1165LysfsTer7
ENST00000457866.6:c.3494_3495del	ENSP00000388650.2:p.Met1165LysfsTer7
ENST00000475846.6:c.1924_1925del
ENST00000487135.1:n.155-4870_155-4869del
ENST00000498558.5:n.343_344del
ENST00000527681.1:c.103_104del
NM_001134830.1:c.3494_3495del	NP_001128302.1:p.Met1165LysfsTer7
NM_001134831.1:c.3494_3495del	NP_001128303.1:p.Met1165LysfsTer7
NM_017651.4:c.3494_3495del	NP_060121.3:p.Met1165LysfsTer7
XM_011535910.1:c.3494_3495del	XP_011534212.1:p.Met1165LysfsTer7
XM_011535911.1:c.3494_3495del	XP_011534213.1:p.Met1165LysfsTer7
XM_011535914.1:c.*15_*16del	XP_011534216.1:n.*15_*16del
XM_011535915.1:c.3486-4870_3486-4869del	XP_011534217.1:n.3486-4870_3486-4869del
XR_942488.1:n.5336_5337del
XR_942490.1:n.5328-4870_5328-4869del
XR_942493.1:n.5197_5198del
XR_942494.1:n.5034_5035del
NM_001350503.1:c.3494_3495del	NP_001337432.1:p.Met1165LysfsTer7
NM_001350504.1:c.3486-4870_3486-4869del	NP_001337433.1:n.3486-4870_3486-4869del
XM_011535910.3:c.3494_3495del	XP_011534212.1:p.Met1165LysfsTer7
XM_011535911.3:c.3494_3495del	XP_011534213.1:p.Met1165LysfsTer7
XM_017010980.2:c.*15_*16del	XP_016866469.1:n.*15_*16del
XM_017010981.2:c.3440_3441del	XP_016866470.1:p.Met1147LysfsTer7
XM_024446479.1:c.3440_3441del	XP_024302247.1:p.Met1147LysfsTer7
XR_001743479.2:n.5433_5434del
XR_001743480.2:n.4261_4262del
XR_001743481.2:n.4226_4227del
XR_001743482.2:n.4129_4130del
XR_001743483.2:n.5425-4870_5425-4869del
XR_001743484.2:n.5294_5295del
XR_001743485.2:n.3990_3991del
XR_001743486.2:n.5286-4870_5286-4869del
XR_001743487.2:n.5416_5417del
XR_001743488.1:n.5658_5659del
XR_001743489.2:n.5131_5132del
XR_001743490.2:n.4112_4113del
XR_002956286.1:n.3765_3766del
XR_002956287.1:n.3757-4870_3757-4869del
NM_001134831.2:c.3494_3495del MANE Select	NP_001128303.1:p.Met1165LysfsTer7
NM_001134830.2:c.3494_3495del	NP_001128302.1:p.Met1165LysfsTer7
NM_001350503.2:c.3494_3495del	NP_001337432.1:p.Met1165LysfsTer7
NM_001350504.2:c.3486-4870_3486-4869del	NP_001337433.1:n.3486-4870_3486-4869del
NM_017651.5:c.3494_3495del	NP_060121.3:p.Met1165LysfsTer7