Canonical Allele Identifier: CA658822833

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 550898
• ClinVar RCV Id: RCV000665783
• dbSNP Id: rs1553418512
• MyVariant Identifiers: chr2:g.73572713dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572713dup , CM000664.2:g.73572713dup	GRCh38
NC_000002.11:g.73799840dup , CM000664.1:g.73799840dup	GRCh37
NC_000002.10:g.73653348dup	NCBI36
NG_011690.1:g.191961dup , LRG_741:g.191961dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10455dup	ENSP00000507671.1:p.Arg3486GlufsTer4
ENST00000682801.1:c.10455dup	ENSP00000507862.1:p.Arg3486GlufsTer4
ENST00000682859.1:c.10455dup	ENSP00000508222.1:p.Arg3486GlufsTer4
ENST00000683791.1:c.3541dup
ENST00000684460.1:c.7736dup
ENST00000684548.1:c.10455dup	ENSP00000507421.1:p.Arg3486GlufsTer4
ENST00000684590.1:c.4902dup	ENSP00000507376.1:p.Arg1635GlufsTer4
ENST00000684656.1:c.7781dup
ENST00000613296.6:c.10836dup MANE Select	ENSP00000482968.1:p.Arg3613GlufsTer4
ENST00000651057.1:c.990dup	ENSP00000498504.1:p.Arg331GlufsTer4
ENST00000651434.1:c.2192dup
ENST00000651750.1:c.224dup
ENST00000652487.1:c.1933dup
ENST00000423048.5:c.4327dup	ENSP00000399833.1:n.4327dup
ENST00000484298.5:c.10710dup	ENSP00000478155.1:p.Arg3571GlufsTer4
ENST00000613296.4:c.10836dup	ENSP00000482968.1:p.Arg3613GlufsTer4
ENST00000614410.4:c.10836dup	ENSP00000479094.1:p.Arg3613GlufsTer4
ENST00000620466.4:n.4639dup
NM_015120.4:c.10839dup , LRG_741t1:c.10839dup	NP_055935.4:p.Arg3614GlufsTer4
NM_001378454.1:c.10836dup MANE Select	NP_001365383.1:p.Arg3613GlufsTer4