Canonical Allele Identifier: CA913090902

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799839dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572712dup , CM000664.2:g.73572712dup	GRCh38
NC_000002.11:g.73799839dup , CM000664.1:g.73799839dup	GRCh37
NC_000002.10:g.73653347dup	NCBI36
NG_011690.1:g.191960dup , LRG_741:g.191960dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10454dup	ENSP00000507671.1:p.Arg3486GlufsTer4
ENST00000682801.1:c.10454dup	ENSP00000507862.1:p.Arg3486GlufsTer4
ENST00000682859.1:c.10454dup	ENSP00000508222.1:p.Arg3486GlufsTer4
ENST00000683791.1:c.3540dup
ENST00000684460.1:c.7735dup
ENST00000684548.1:c.10454dup	ENSP00000507421.1:p.Arg3486GlufsTer4
ENST00000684590.1:c.4901dup	ENSP00000507376.1:p.Arg1635GlufsTer4
ENST00000684656.1:c.7780dup
ENST00000613296.6:c.10835dup MANE Select	ENSP00000482968.1:p.Arg3613GlufsTer4
ENST00000651057.1:c.989dup	ENSP00000498504.1:p.Arg331GlufsTer4
ENST00000651434.1:c.2191dup
ENST00000651750.1:c.223dup
ENST00000652487.1:c.1932dup
ENST00000423048.5:c.4326dup	ENSP00000399833.1:n.4326dup
ENST00000484298.5:c.10709dup	ENSP00000478155.1:p.Arg3571GlufsTer4
ENST00000613296.4:c.10835dup	ENSP00000482968.1:p.Arg3613GlufsTer4
ENST00000614410.4:c.10835dup	ENSP00000479094.1:p.Arg3613GlufsTer4
ENST00000620466.4:n.4638dup
NM_015120.4:c.10838dup , LRG_741t1:c.10838dup	NP_055935.4:p.Arg3614GlufsTer4
NM_001378454.1:c.10835dup MANE Select	NP_001365383.1:p.Arg3613GlufsTer4