Canonical Allele Identifier: CA2582342409

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2585640
• ClinVar RCV Id: RCV003338922

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489928_73489934del , CM000664.2:g.73489928_73489934del	GRCh38
NC_000002.11:g.73717055_73717061del , CM000664.1:g.73717055_73717061del	GRCh37
NC_000002.10:g.73570563_73570569del	NCBI36
NG_011690.1:g.109176_109182del , LRG_741:g.109176_109182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7588_7594del	ENSP00000507671.1:p.Phe2530LeufsTer25
ENST00000682801.1:c.7588_7594del	ENSP00000507862.1:p.Phe2530LeufsTer25
ENST00000682859.1:c.7588_7594del	ENSP00000508222.1:p.Phe2530LeufsTer25
ENST00000683791.1:c.980_986del
ENST00000684460.1:c.5040_5046del
ENST00000684548.1:c.7588_7594del	ENSP00000507421.1:p.Phe2530LeufsTer25
ENST00000684590.1:c.2035_2041del	ENSP00000507376.1:p.Phe679LeufsTer25
ENST00000684656.1:c.5040_5046del
ENST00000613296.6:c.7969_7975del MANE Select	ENSP00000482968.1:p.Phe2657LeufsTer25
ENST00000651434.1:c.896-29847_896-29841del
ENST00000423048.5:c.2800_2806del	ENSP00000399833.1:p.Phe934LeufsTer25
ENST00000484298.5:c.7843_7849del	ENSP00000478155.1:p.Phe2615LeufsTer25
ENST00000613296.4:c.7969_7975del	ENSP00000482968.1:p.Phe2657LeufsTer25
ENST00000614410.4:c.7969_7975del	ENSP00000479094.1:p.Phe2657LeufsTer25
ENST00000620466.4:n.1772_1778del
NM_015120.4:c.7972_7978del , LRG_741t1:c.7972_7978del	NP_055935.4:p.Phe2658LeufsTer25
NM_001378454.1:c.7969_7975del MANE Select	NP_001365383.1:p.Phe2657LeufsTer25