Canonical Allele Identifier: CA2750467833

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572872del , CM000664.2:g.73572872del	GRCh38
NC_000002.11:g.73799999del , CM000664.1:g.73799999del	GRCh37
NC_000002.10:g.73653507del	NCBI36
NG_011690.1:g.192120del , LRG_741:g.192120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10614del	ENSP00000507671.1:p.Arg3539AspfsTer17
ENST00000682801.1:c.10614del	ENSP00000507862.1:p.Arg3539AspfsTer17
ENST00000682859.1:c.10614del	ENSP00000508222.1:p.Arg3539AspfsTer17
ENST00000683791.1:c.3700del
ENST00000684460.1:c.7895del
ENST00000684548.1:c.10614del	ENSP00000507421.1:p.Arg3539AspfsTer17
ENST00000684590.1:c.5061del	ENSP00000507376.1:p.Arg1688AspfsTer17
ENST00000684656.1:c.7940del
ENST00000613296.6:c.10995del MANE Select	ENSP00000482968.1:p.Arg3666AspfsTer17
ENST00000651057.1:c.1149del	ENSP00000498504.1:p.Arg384AspfsTer17
ENST00000651434.1:c.2351del
ENST00000651750.1:c.383del
ENST00000652487.1:c.2092del
ENST00000423048.5:c.4486del	ENSP00000399833.1:n.4486del
ENST00000484298.5:c.10869del	ENSP00000478155.1:p.Arg3624AspfsTer17
ENST00000613296.4:c.10995del	ENSP00000482968.1:p.Arg3666AspfsTer17
ENST00000614410.4:c.10995del	ENSP00000479094.1:p.Arg3666AspfsTer17
ENST00000620466.4:n.4798del
NM_015120.4:c.10998del , LRG_741t1:c.10998del	NP_055935.4:p.Arg3667AspfsTer17
NM_001378454.1:c.10995del MANE Select	NP_001365383.1:p.Arg3666AspfsTer17