Canonical Allele Identifier: CA2680455042
Gene: AHI1 HGNC NCBI
AHI1-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135497863_135497864del , CM000668.2:g.135497863_135497864del GRCh38
NC_000006.11:g.135819001_135819002del , CM000668.1:g.135819001_135819002del GRCh37
NC_000006.10:g.135860694_135860695del NCBI36
NG_008643.1:g.4903_4904del
NG_008643.2:g.4903_4904del

Transcript Alleles

HGVS Amino-acid Change
ENST00000680033.1:c.-2379_-2378del (AHI1) ENSP00000506426.1:n.-2379_-2378del
ENST00000681022.1:c.-2379_-2378del (AHI1) ENSP00000505121.1:n.-2379_-2378del
NR_026805.1:n.63_64del (AHI1-DT)
NR_152842.1:n.63_64del (AHI1-DT)
NR_152843.1:n.63_64del (AHI1-DT)
NR_152844.1:n.63_64del (AHI1-DT)
NR_152845.1:n.63_64del (AHI1-DT)