Canonical Allele Identifier: CA10625855

Gene: AHI1

Linked Data

• ClinVar Variation Id: 355483
• ClinVar RCV Id: RCV000382627
• dbSNP Id: rs886061104
• MyVariant Identifiers: chr6:g.135605662_135605664del (hg19) ; chr6:g.135284524_135284526del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135284527_135284529del , CM000668.2:g.135284527_135284529del	GRCh38
NC_000006.11:g.135605665_135605667del , CM000668.1:g.135605665_135605667del	GRCh37
NC_000006.10:g.135647358_135647360del	NCBI36
NG_008643.1:g.218240_218242del
NG_008643.2:g.218240_218242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.*1119_*1121del MANE Select	ENSP00000265602.6:n.*1119_*1121del
ENST00000498558.6:n.1751_1753del
ENST00000527681.2:c.2379_2381del
ENST00000679490.1:n.4085_4087del
ENST00000679502.1:n.3482_3484del
ENST00000679589.1:c.*4738_*4740del	ENSP00000506644.1:n.*4738_*4740del
ENST00000679668.1:c.6242_6244del	ENSP00000505364.1:n.6242_6244del
ENST00000679672.1:c.*2685_*2687del	ENSP00000505697.1:n.*2685_*2687del
ENST00000679711.1:c.3004_3006del
ENST00000679742.1:c.6017_6019del	ENSP00000504890.1:n.6017_6019del
ENST00000679890.1:n.3201_3203del
ENST00000679925.1:c.*1100_*1102del	ENSP00000505502.1:n.*1100_*1102del
ENST00000680071.1:n.5483_5485del
ENST00000680119.1:c.4935_4937del	ENSP00000506403.1:n.4935_4937del
ENST00000680337.1:c.2065_2067del
ENST00000680561.1:n.7350_7352del
ENST00000680826.1:c.4895_4897del	ENSP00000505224.1:n.4895_4897del
ENST00000680840.1:c.4938_4940del	ENSP00000505809.1:n.4938_4940del
ENST00000680965.1:c.*2164_*2166del	ENSP00000505398.1:n.*2164_*2166del
ENST00000681022.1:c.*1119_*1121del	ENSP00000505121.1:n.*1119_*1121del
ENST00000681196.1:n.5380_5382del
ENST00000681331.1:n.2439_2441del
ENST00000681332.1:n.5227_5229del
ENST00000681340.1:c.*1119_*1121del	ENSP00000505666.1:n.*1119_*1121del
ENST00000681365.1:c.*1119_*1121del	ENSP00000506604.1:n.*1119_*1121del
ENST00000681522.1:c.*1119_*1121del	ENSP00000506005.1:n.*1119_*1121del
ENST00000681556.1:n.4844_4846del
ENST00000681718.1:c.*3197_*3199del	ENSP00000505266.1:n.*3197_*3199del
ENST00000681754.1:n.5398_5400del
ENST00000681828.1:c.6266_6268del	ENSP00000505608.1:n.6266_6268del
ENST00000681841.1:c.*1119_*1121del	ENSP00000504965.1:n.*1119_*1121del
ENST00000681860.1:c.4526_4528del	ENSP00000506250.1:n.4526_4528del
ENST00000367800.8:c.*1119_*1121del	ENSP00000356774.4:n.*1119_*1121del
ENST00000457866.6:c.*1119_*1121del	ENSP00000388650.2:n.*1119_*1121del
NM_001134830.1:c.*1119_*1121del	NP_001128302.1:n.*1119_*1121del
NM_001134831.1:c.*1119_*1121del	NP_001128303.1:n.*1119_*1121del
NM_017651.4:c.*1119_*1121del	NP_060121.3:n.*1119_*1121del
XM_011535910.1:c.*1119_*1121del	XP_011534212.1:n.*1119_*1121del
XM_011535911.1:c.*1119_*1121del	XP_011534213.1:n.*1119_*1121del
XM_011535915.1:c.*1100_*1102del	XP_011534217.1:n.*1100_*1102del
XR_942488.1:n.6552_6554del
XR_942493.1:n.6413_6415del
XR_942494.1:n.6250_6252del
NM_001350503.1:c.*1119_*1121del	NP_001337432.1:n.*1119_*1121del
NM_001350504.1:c.*1100_*1102del	NP_001337433.1:n.*1100_*1102del
XR_001743479.2:n.6649_6651del
XR_001743480.2:n.5477_5479del
XR_001743481.2:n.5442_5444del
XR_001743482.2:n.5345_5347del
XR_001743483.2:n.6546_6548del
XR_001743484.2:n.6510_6512del
XR_001743485.2:n.5206_5208del
XR_001743486.2:n.6407_6409del
XR_001743487.2:n.6632_6634del
XR_001743488.1:n.6874_6876del
XR_001743489.2:n.6347_6349del
XR_001743490.2:n.5328_5330del
XR_002956287.1:n.4878_4880del
NM_001134831.2:c.*1119_*1121del MANE Select	NP_001128303.1:n.*1119_*1121del
NM_001134830.2:c.*1119_*1121del	NP_001128302.1:n.*1119_*1121del
NM_001350503.2:c.*1119_*1121del	NP_001337432.1:n.*1119_*1121del
NM_001350504.2:c.*1100_*1102del	NP_001337433.1:n.*1100_*1102del
NM_017651.5:c.*1119_*1121del	NP_060121.3:n.*1119_*1121del