Canonical Allele Identifier: CA2773183109
Gene: AHI1 HGNC NCBI
AHI1-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135497823_135497825del , CM000668.2:g.135497823_135497825del GRCh38
NC_000006.11:g.135818961_135818963del , CM000668.1:g.135818961_135818963del GRCh37
NC_000006.10:g.135860654_135860656del NCBI36
NG_008643.1:g.4941_4943del
NG_008643.2:g.4941_4943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000680033.1:c.-2341_-2339del (AHI1) ENSP00000506426.1:n.-2341_-2339del
ENST00000681022.1:c.-2341_-2339del (AHI1) ENSP00000505121.1:n.-2341_-2339del
NR_026805.1:n.23_25del (AHI1-DT)
NR_152842.1:n.23_25del (AHI1-DT)
NR_152843.1:n.23_25del (AHI1-DT)
NR_152844.1:n.23_25del (AHI1-DT)
NR_152845.1:n.23_25del (AHI1-DT)