Canonical Allele Identifier: CA1261040924
Gene: ALMS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73610770_73610771delinsAC , CM000664.2:g.73610770_73610771delinsAC GRCh38
NC_000002.11:g.73837897_73837898delinsAC , CM000664.1:g.73837897_73837898delinsAC GRCh37
NC_000002.10:g.73691405_73691406delinsAC NCBI36
NG_011690.1:g.230018_230019delinsAC , LRG_741:g.230018_230019delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000651434.1:c.3933+1088_3933+1089delinsAC
ENST00000490821.1:n.555_556delinsAC