Canonical Allele Identifier: CA16611025
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 403929
ClinVar RCV Id: RCV000459403
dbSNP Id: rs1060500034
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73559058delinsGA , CM000664.2:g.73559058delinsGA GRCh38
NC_000002.11:g.73786185delinsGA , CM000664.1:g.73786185delinsGA GRCh37
NC_000002.10:g.73639693delinsGA NCBI36
NG_011690.1:g.178306delinsGA , LRG_741:g.178306delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000682565.1:c.9919delinsGA ENSP00000507671.1:p.Gln3307GlufsTer7
ENST00000682801.1:c.9919delinsGA ENSP00000507862.1:p.Gln3307GlufsTer7
ENST00000682859.1:c.9919delinsGA ENSP00000508222.1:p.Gln3307GlufsTer7
ENST00000683791.1:c.3089+8621delinsGA
ENST00000684460.1:c.7200delinsGA
ENST00000684548.1:c.9919delinsGA ENSP00000507421.1:p.Gln3307GlufsTer7
ENST00000684590.1:c.4366delinsGA ENSP00000507376.1:p.Gln1456GlufsTer7
ENST00000684656.1:c.7245delinsGA
ENST00000613296.6:c.10300delinsGA MANE Select ENSP00000482968.1:p.Gln3434GlufsTer7
ENST00000651057.1:c.454delinsGA ENSP00000498504.1:p.Gln152GlufsTer7
ENST00000651434.1:c.1656delinsGA
ENST00000652487.1:c.1397delinsGA
ENST00000423048.5:c.3791delinsGA ENSP00000399833.1:n.3791delinsGA
ENST00000484298.5:c.10174delinsGA ENSP00000478155.1:p.Gln3392GlufsTer7
ENST00000613296.4:c.10300delinsGA ENSP00000482968.1:p.Gln3434GlufsTer7
ENST00000614410.4:c.10300delinsGA ENSP00000479094.1:p.Gln3434GlufsTer7
ENST00000620466.4:n.4103delinsGA
NM_015120.4:c.10303delinsGA , LRG_741t1:c.10303delinsGA NP_055935.4:p.Gln3435GlufsTer7
NM_001378454.1:c.10300delinsGA MANE Select NP_001365383.1:p.Gln3434GlufsTer7
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