Canonical Allele Identifier: CA1094780162

Gene: AHI1

Linked Data

• dbSNP Id: rs1782201838
• gnomAD v3: 6-135290467-T-TC
• gnomAD v4: 6-135290467-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290469dup , CM000668.2:g.135290469dup	GRCh38
NC_000006.11:g.135611607dup , CM000668.1:g.135611607dup	GRCh37
NC_000006.10:g.135653300dup	NCBI36
NG_008643.1:g.212298dup
NG_008643.2:g.212298dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265602.11:c.3543dup MANE Select	ENSP00000265602.6:p.Met1182AspfsTer19
ENST00000498558.6:n.584dup
ENST00000527681.2:c.1212dup
ENST00000679434.1:c.5159dup	ENSP00000505592.1:n.5159dup
ENST00000679450.1:c.3282dup	ENSP00000506494.1:p.Met1095AspfsTer?
ENST00000679490.1:n.2918dup
ENST00000679502.1:n.2361-4821dup
ENST00000679589.1:c.*3571dup	ENSP00000506644.1:n.*3571dup
ENST00000679668.1:c.5075dup	ENSP00000505364.1:n.5075dup
ENST00000679672.1:c.*1518dup	ENSP00000505697.1:n.*1518dup
ENST00000679711.1:c.1837dup
ENST00000679742.1:c.4896-4821dup	ENSP00000504890.1:n.4896-4821dup
ENST00000679890.1:n.2034dup
ENST00000679925.1:c.3486-4821dup	ENSP00000505502.1:n.3486-4821dup
ENST00000679943.1:c.3604dup	ENSP00000505663.1:n.3604dup
ENST00000680071.1:n.4316dup
ENST00000680119.1:c.3768dup	ENSP00000506403.1:n.3768dup
ENST00000680328.1:n.652dup
ENST00000680337.1:c.944-4821dup
ENST00000680561.1:n.6229-4821dup
ENST00000680826.1:c.3728dup	ENSP00000505224.1:n.3728dup
ENST00000680840.1:c.3771dup	ENSP00000505809.1:n.3771dup
ENST00000680965.1:c.*997dup	ENSP00000505398.1:n.*997dup
ENST00000681022.1:c.3543dup	ENSP00000505121.1:p.Met1182AspfsTer19
ENST00000681057.1:n.2744-4821dup
ENST00000681196.1:n.4259-4821dup
ENST00000681301.1:c.3390dup	ENSP00000505093.1:p.Met1131AspfsTer?
ENST00000681331.1:n.1272dup
ENST00000681332.1:n.4060dup
ENST00000681340.1:c.3543dup	ENSP00000505666.1:p.Met1182AspfsTer19
ENST00000681365.1:c.3543dup	ENSP00000506604.1:p.Met1182AspfsTer19
ENST00000681488.1:c.3412dup	ENSP00000505884.1:n.3412dup
ENST00000681522.1:c.3543dup	ENSP00000506005.1:p.Met1182AspfsTer19
ENST00000681556.1:n.3677dup
ENST00000681718.1:c.*2030dup	ENSP00000505266.1:n.*2030dup
ENST00000681754.1:n.4231dup
ENST00000681828.1:c.5099dup	ENSP00000505608.1:n.5099dup
ENST00000681841.1:c.3543dup	ENSP00000504965.1:p.Met1182AspfsTer19
ENST00000681860.1:c.3359dup	ENSP00000506250.1:n.3359dup
ENST00000265602.10:c.3543dup	ENSP00000265602.6:p.Met1182AspfsTer19
ENST00000367799.6:c.1985-4821dup
ENST00000367800.8:c.3543dup	ENSP00000356774.4:p.Met1182AspfsTer19
ENST00000457866.6:c.3543dup	ENSP00000388650.2:p.Met1182AspfsTer19
ENST00000475846.6:c.1973dup
ENST00000487135.1:n.155-4821dup
ENST00000498558.5:n.392dup
ENST00000527681.1:c.152dup
NM_001134830.1:c.3543dup	NP_001128302.1:p.Met1182AspfsTer19
NM_001134831.1:c.3543dup	NP_001128303.1:p.Met1182AspfsTer19
NM_017651.4:c.3543dup	NP_060121.3:p.Met1182AspfsTer19
XM_011535910.1:c.3543dup	XP_011534212.1:p.Met1182AspfsTer19
XM_011535911.1:c.3543dup	XP_011534213.1:p.Met1182AspfsTer19
XM_011535914.1:c.*64dup	XP_011534216.1:n.*64dup
XM_011535915.1:c.3486-4821dup	XP_011534217.1:n.3486-4821dup
XR_942488.1:n.5385dup
XR_942490.1:n.5328-4821dup
XR_942493.1:n.5246dup
XR_942494.1:n.5083dup
NM_001350503.1:c.3543dup	NP_001337432.1:p.Met1182AspfsTer19
NM_001350504.1:c.3486-4821dup	NP_001337433.1:n.3486-4821dup
XM_011535910.3:c.3543dup	XP_011534212.1:p.Met1182AspfsTer19
XM_011535911.3:c.3543dup	XP_011534213.1:p.Met1182AspfsTer19
XM_017010980.2:c.*64dup	XP_016866469.1:n.*64dup
XM_017010981.2:c.3489dup	XP_016866470.1:p.Met1164AspfsTer19
XM_024446479.1:c.3489dup	XP_024302247.1:p.Met1164AspfsTer19
XR_001743479.2:n.5482dup
XR_001743480.2:n.4310dup
XR_001743481.2:n.4275dup
XR_001743482.2:n.4178dup
XR_001743483.2:n.5425-4821dup
XR_001743484.2:n.5343dup
XR_001743485.2:n.4039dup
XR_001743486.2:n.5286-4821dup
XR_001743487.2:n.5465dup
XR_001743488.1:n.5707dup
XR_001743489.2:n.5180dup
XR_001743490.2:n.4161dup
XR_002956286.1:n.3814dup
XR_002956287.1:n.3757-4821dup
NM_001134831.2:c.3543dup MANE Select	NP_001128303.1:p.Met1182AspfsTer19
NM_001134830.2:c.3543dup	NP_001128302.1:p.Met1182AspfsTer19
NM_001350503.2:c.3543dup	NP_001337432.1:p.Met1182AspfsTer19
NM_001350504.2:c.3486-4821dup	NP_001337433.1:n.3486-4821dup
NM_017651.5:c.3543dup	NP_060121.3:p.Met1182AspfsTer19