Canonical Allele Identifier: CA2573135752

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1352318
• ClinVar RCV Id: RCV002047513
• dbSNP Id: rs2103889832

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489823dup , CM000664.2:g.73489823dup	GRCh38
NC_000002.11:g.73716950dup , CM000664.1:g.73716950dup	GRCh37
NC_000002.10:g.73570458dup	NCBI36
NG_011690.1:g.109071dup , LRG_741:g.109071dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7483dup	ENSP00000507671.1:p.Cys2495LeufsTer?
ENST00000682801.1:c.7483dup	ENSP00000507862.1:p.Cys2495LeufsTer?
ENST00000682859.1:c.7483dup	ENSP00000508222.1:p.Cys2495LeufsTer?
ENST00000683791.1:c.875dup
ENST00000684460.1:c.4935dup
ENST00000684548.1:c.7483dup	ENSP00000507421.1:p.Cys2495LeufsTer?
ENST00000684590.1:c.1930dup	ENSP00000507376.1:p.Cys644LeufsTer?
ENST00000684656.1:c.4935dup
ENST00000613296.6:c.7864dup MANE Select	ENSP00000482968.1:p.Cys2622LeufsTer?
ENST00000651434.1:c.896-29952dup
ENST00000423048.5:c.2695dup	ENSP00000399833.1:p.Cys899LeufsTer?
ENST00000484298.5:c.7738dup	ENSP00000478155.1:p.Cys2580LeufsTer?
ENST00000613296.4:c.7864dup	ENSP00000482968.1:p.Cys2622LeufsTer?
ENST00000614410.4:c.7864dup	ENSP00000479094.1:p.Cys2622LeufsTer?
ENST00000620466.4:n.1667dup
NM_015120.4:c.7867dup , LRG_741t1:c.7867dup	NP_055935.4:p.Cys2623LeufsTer?
NM_001378454.1:c.7864dup MANE Select	NP_001365383.1:p.Cys2622LeufsTer?