Canonical Allele Identifier: CA1713220
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374506
dbSNP Id: rs777476179

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73448259del , CM000664.2:g.73448259del GRCh38
NC_000002.11:g.73675386del , CM000664.1:g.73675386del GRCh37
NC_000002.10:g.73528894del NCBI36
NG_011690.1:g.67507del , LRG_741:g.67507del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.1351del ENSP00000507671.1:p.Arg451GlyfsTer17
ENST00000682801.1:c.1351del ENSP00000507862.1:p.Arg451GlyfsTer17
ENST00000682859.1:c.1351del ENSP00000508222.1:p.Arg451GlyfsTer17
ENST00000683791.1:c.685+15968del
ENST00000684548.1:c.1351del ENSP00000507421.1:p.Arg451GlyfsTer17
ENST00000613296.6:c.1732del MANE Select ENSP00000482968.1:p.Arg578GlyfsTer17
ENST00000484298.5:c.1606del ENSP00000478155.1:p.Arg536GlyfsTer17
ENST00000613296.4:c.1732del ENSP00000482968.1:p.Arg578GlyfsTer17
ENST00000614410.4:c.1732del ENSP00000479094.1:p.Arg578GlyfsTer17
NM_015120.4:c.1735del , LRG_741t1:c.1735del NP_055935.4:p.Arg579GlyfsTer17
NM_001378454.1:c.1732del MANE Select NP_001365383.1:p.Arg578GlyfsTer17