Canonical Allele Identifier: CA819386938

Gene: AHI1

Linked Data

• dbSNP Id: rs1219467052
• gnomAD v3: 6-135290437-CT-C
• gnomAD v4: 6-135290437-CT-C
• MyVariant Identifiers: chr6:g.135611576del (hg19) ; chr6:g.135290438del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290441del , CM000668.2:g.135290441del	GRCh38
NC_000006.11:g.135611579del , CM000668.1:g.135611579del	GRCh37
NC_000006.10:g.135653272del	NCBI36
NG_008643.1:g.212328del
NG_008643.2:g.212328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3573del MANE Select	ENSP00000265602.6:p.Val1192SerfsTer3
ENST00000498558.6:n.614del
ENST00000527681.2:c.1242del
ENST00000679434.1:c.5189del	ENSP00000505592.1:n.5189del
ENST00000679450.1:c.3312del	ENSP00000506494.1:p.Val1105SerfsTer3
ENST00000679490.1:n.2948del
ENST00000679502.1:n.2361-4791del
ENST00000679589.1:c.*3601del	ENSP00000506644.1:n.*3601del
ENST00000679668.1:c.5105del	ENSP00000505364.1:n.5105del
ENST00000679672.1:c.*1548del	ENSP00000505697.1:n.*1548del
ENST00000679711.1:c.1867del
ENST00000679742.1:c.4896-4791del	ENSP00000504890.1:n.4896-4791del
ENST00000679890.1:n.2064del
ENST00000679925.1:c.3486-4791del	ENSP00000505502.1:n.3486-4791del
ENST00000679943.1:c.3634del	ENSP00000505663.1:n.3634del
ENST00000680071.1:n.4346del
ENST00000680119.1:c.3798del	ENSP00000506403.1:n.3798del
ENST00000680328.1:n.682del
ENST00000680337.1:c.944-4791del
ENST00000680561.1:n.6229-4791del
ENST00000680826.1:c.3758del	ENSP00000505224.1:n.3758del
ENST00000680840.1:c.3801del	ENSP00000505809.1:n.3801del
ENST00000680965.1:c.*1027del	ENSP00000505398.1:n.*1027del
ENST00000681022.1:c.3573del	ENSP00000505121.1:p.Val1192SerfsTer3
ENST00000681057.1:n.2744-4791del
ENST00000681196.1:n.4259-4791del
ENST00000681301.1:c.3420del	ENSP00000505093.1:p.Val1141SerfsTer3
ENST00000681331.1:n.1302del
ENST00000681332.1:n.4090del
ENST00000681340.1:c.3573del	ENSP00000505666.1:p.Val1192SerfsTer3
ENST00000681365.1:c.3573del	ENSP00000506604.1:p.Val1192SerfsTer3
ENST00000681488.1:c.3442del	ENSP00000505884.1:n.3442del
ENST00000681522.1:c.3573del	ENSP00000506005.1:p.Val1192SerfsTer3
ENST00000681556.1:n.3707del
ENST00000681718.1:c.*2060del	ENSP00000505266.1:n.*2060del
ENST00000681754.1:n.4261del
ENST00000681828.1:c.5129del	ENSP00000505608.1:n.5129del
ENST00000681841.1:c.3573del	ENSP00000504965.1:p.Val1192SerfsTer3
ENST00000681860.1:c.3389del	ENSP00000506250.1:n.3389del
ENST00000265602.10:c.3573del	ENSP00000265602.6:p.Val1192SerfsTer3
ENST00000367799.6:c.1985-4791del
ENST00000367800.8:c.3573del	ENSP00000356774.4:p.Val1192SerfsTer3
ENST00000457866.6:c.3573del	ENSP00000388650.2:p.Val1192SerfsTer3
ENST00000475846.6:c.2003del
ENST00000487135.1:n.155-4791del
ENST00000498558.5:n.422del
ENST00000527681.1:c.182del
NM_001134830.1:c.3573del	NP_001128302.1:p.Val1192SerfsTer3
NM_001134831.1:c.3573del	NP_001128303.1:p.Val1192SerfsTer3
NM_017651.4:c.3573del	NP_060121.3:p.Val1192SerfsTer3
XM_011535910.1:c.3573del	XP_011534212.1:p.Val1192SerfsTer3
XM_011535911.1:c.3573del	XP_011534213.1:p.Val1192SerfsTer3
XM_011535915.1:c.3486-4791del	XP_011534217.1:n.3486-4791del
XR_942488.1:n.5415del
XR_942490.1:n.5328-4791del
XR_942493.1:n.5276del
XR_942494.1:n.5113del
NM_001350503.1:c.3573del	NP_001337432.1:p.Val1192SerfsTer3
NM_001350504.1:c.3486-4791del	NP_001337433.1:n.3486-4791del
XM_011535910.3:c.3573del	XP_011534212.1:p.Val1192SerfsTer3
XM_011535911.3:c.3573del	XP_011534213.1:p.Val1192SerfsTer3
XM_017010980.2:c.*94del	XP_016866469.1:n.*94del
XM_017010981.2:c.3519del	XP_016866470.1:p.Val1174SerfsTer3
XM_024446479.1:c.3519del	XP_024302247.1:p.Val1174SerfsTer3
XR_001743479.2:n.5512del
XR_001743480.2:n.4340del
XR_001743481.2:n.4305del
XR_001743482.2:n.4208del
XR_001743483.2:n.5425-4791del
XR_001743484.2:n.5373del
XR_001743485.2:n.4069del
XR_001743486.2:n.5286-4791del
XR_001743487.2:n.5495del
XR_001743488.1:n.5737del
XR_001743489.2:n.5210del
XR_001743490.2:n.4191del
XR_002956286.1:n.3844del
XR_002956287.1:n.3757-4791del
NM_001134831.2:c.3573del MANE Select	NP_001128303.1:p.Val1192SerfsTer3
NM_001134830.2:c.3573del	NP_001128302.1:p.Val1192SerfsTer3
NM_001350503.2:c.3573del	NP_001337432.1:p.Val1192SerfsTer3
NM_001350504.2:c.3486-4791del	NP_001337433.1:n.3486-4791del
NM_017651.5:c.3573del	NP_060121.3:p.Val1192SerfsTer3