Canonical Allele Identifier: CA1665917226

Gene: AHI1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135497757_135497760delinsCGCG , CM000668.2:g.135497757_135497760delinsCGCG	GRCh38
NC_000006.11:g.135818895_135818898delinsCGCG , CM000668.1:g.135818895_135818898delinsCGCG	GRCh37
NC_000006.10:g.135860588_135860591delinsCGCG	NCBI36
NG_008643.1:g.5006_5009delinsCGCG
NG_008643.2:g.5006_5009delinsCGCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000679589.1:c.-379_-376delinsCGCG	ENSP00000506644.1:n.-379_-376delinsCGCG
ENST00000680033.1:c.-2276_-2273delinsCGCG	ENSP00000506426.1:n.-2276_-2273delinsCGCG
ENST00000681022.1:c.-2276_-2273delinsCGCG	ENSP00000505121.1:n.-2276_-2273delinsCGCG
ENST00000681340.1:c.-465_-462delinsCGCG	ENSP00000505666.1:n.-465_-462delinsCGCG
ENST00000681841.1:c.-488_-485delinsCGCG	ENSP00000504965.1:n.-488_-485delinsCGCG
ENST00000265602.10:c.-379_-376delinsCGCG	ENSP00000265602.6:n.-379_-376delinsCGCG
ENST00000457866.6:c.-294_-291delinsCGCG	ENSP00000388650.2:n.-294_-291delinsCGCG
NM_001134830.1:c.-232_-229delinsCGCG	NP_001128302.1:n.-232_-229delinsCGCG
NM_001134831.1:c.-379_-376delinsCGCG	NP_001128303.1:n.-379_-376delinsCGCG
NM_001134832.1:c.-294_-291delinsCGCG	NP_001128304.1:n.-294_-291delinsCGCG
NM_017651.4:c.-294_-291delinsCGCG	NP_060121.3:n.-294_-291delinsCGCG
NM_001350503.1:c.-488_-485delinsCGCG	NP_001337432.1:n.-488_-485delinsCGCG
NM_001350504.1:c.-379_-376delinsCGCG	NP_001337433.1:n.-379_-376delinsCGCG
XM_011535910.3:c.-550_-547delinsCGCG	XP_011534212.1:n.-550_-547delinsCGCG
XM_017010978.2:c.-379_-376delinsCGCG	XP_016866467.1:n.-379_-376delinsCGCG
XM_017010979.2:c.-379_-376delinsCGCG	XP_016866468.1:n.-379_-376delinsCGCG
XM_017010980.2:c.-379_-376delinsCGCG	XP_016866469.1:n.-379_-376delinsCGCG
XM_017010981.2:c.-379_-376delinsCGCG	XP_016866470.1:n.-379_-376delinsCGCG
XM_017010984.2:c.-379_-376delinsCGCG	XP_016866473.1:n.-379_-376delinsCGCG
XM_024446479.1:c.-294_-291delinsCGCG	XP_024302247.1:n.-294_-291delinsCGCG
XM_024446480.1:c.-379_-376delinsCGCG	XP_024302248.1:n.-379_-376delinsCGCG
XR_001743479.2:n.12_15delinsCGCG
XR_001743480.2:n.12_15delinsCGCG
XR_001743481.2:n.12_15delinsCGCG
XR_001743482.2:n.12_15delinsCGCG
XR_001743483.2:n.12_15delinsCGCG
XR_001743484.2:n.12_15delinsCGCG
XR_001743485.2:n.12_15delinsCGCG
XR_001743486.2:n.12_15delinsCGCG
XR_001743487.2:n.12_15delinsCGCG
XR_001743489.2:n.12_15delinsCGCG
XR_001743490.2:n.12_15delinsCGCG
XR_002956286.1:n.12_15delinsCGCG
XR_002956287.1:n.12_15delinsCGCG