Canonical Allele Identifier: CA1032214524

Gene: ALMS1

Linked Data

• dbSNP Id: rs1674964834
• gnomAD v3: 2-73572737-G-GA
• gnomAD v4: 2-73572737-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572740dup , CM000664.2:g.73572740dup	GRCh38
NC_000002.11:g.73799867dup , CM000664.1:g.73799867dup	GRCh37
NC_000002.10:g.73653375dup	NCBI36
NG_011690.1:g.191988dup , LRG_741:g.191988dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10482dup	ENSP00000507671.1:p.Glu3495ArgfsTer9
ENST00000682801.1:c.10482dup	ENSP00000507862.1:p.Glu3495ArgfsTer9
ENST00000682859.1:c.10482dup	ENSP00000508222.1:p.Glu3495ArgfsTer9
ENST00000683791.1:c.3568dup
ENST00000684460.1:c.7763dup
ENST00000684548.1:c.10482dup	ENSP00000507421.1:p.Glu3495ArgfsTer9
ENST00000684590.1:c.4929dup	ENSP00000507376.1:p.Glu1644ArgfsTer9
ENST00000684656.1:c.7808dup
ENST00000613296.6:c.10863dup MANE Select	ENSP00000482968.1:p.Glu3622ArgfsTer9
ENST00000651057.1:c.1017dup	ENSP00000498504.1:p.Glu340ArgfsTer9
ENST00000651434.1:c.2219dup
ENST00000651750.1:c.251dup
ENST00000652487.1:c.1960dup
ENST00000423048.5:c.4354dup	ENSP00000399833.1:n.4354dup
ENST00000484298.5:c.10737dup	ENSP00000478155.1:p.Glu3580ArgfsTer9
ENST00000613296.4:c.10863dup	ENSP00000482968.1:p.Glu3622ArgfsTer9
ENST00000614410.4:c.10863dup	ENSP00000479094.1:p.Glu3622ArgfsTer9
ENST00000620466.4:n.4666dup
NM_015120.4:c.10866dup , LRG_741t1:c.10866dup	NP_055935.4:p.Glu3623ArgfsTer9
NM_001378454.1:c.10863dup MANE Select	NP_001365383.1:p.Glu3622ArgfsTer9