Canonical Allele Identifier: CA2680455035

Gene: AHI1 AHI1-DT

Linked Data

• gnomAD v4: 6-135497850-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135497854_135497855del , CM000668.2:g.135497854_135497855del	GRCh38
NC_000006.11:g.135818992_135818993del , CM000668.1:g.135818992_135818993del	GRCh37
NC_000006.10:g.135860685_135860686del	NCBI36
NG_008643.1:g.4914_4915del
NG_008643.2:g.4914_4915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680033.1:c.-2368_-2367del (AHI1)	ENSP00000506426.1:n.-2368_-2367del
ENST00000681022.1:c.-2368_-2367del (AHI1)	ENSP00000505121.1:n.-2368_-2367del
NR_026805.1:n.54_55del (AHI1-DT)
NR_152842.1:n.54_55del (AHI1-DT)
NR_152843.1:n.54_55del (AHI1-DT)
NR_152844.1:n.54_55del (AHI1-DT)
NR_152845.1:n.54_55del (AHI1-DT)