Canonical Allele Identifier: CA2573135820

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1427225
• ClinVar RCV Id: RCV001933606
• dbSNP Id: rs2104196326

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601381del , CM000664.2:g.73601381del	GRCh38
NC_000002.11:g.73828508del , CM000664.1:g.73828508del	GRCh37
NC_000002.10:g.73682016del	NCBI36
NG_011690.1:g.220629del , LRG_741:g.220629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11678del	ENSP00000507671.1:p.Pro3893GlnfsTer10
ENST00000682801.1:c.11167-804del	ENSP00000507862.1:n.11167-804del
ENST00000682859.1:c.11678del	ENSP00000508222.1:p.Pro3893GlnfsTer10
ENST00000683791.1:c.4764del
ENST00000684460.1:c.8959del
ENST00000684548.1:c.11678del	ENSP00000507421.1:p.Pro3893GlnfsTer10
ENST00000684590.1:c.6125del	ENSP00000507376.1:p.Pro2042GlnfsTer10
ENST00000684656.1:c.9143del
ENST00000613296.6:c.12059del MANE Select	ENSP00000482968.1:p.Pro4020GlnfsTer10
ENST00000651057.1:c.2213del	ENSP00000498504.1:p.Pro738GlnfsTer10
ENST00000651434.1:c.3415del
ENST00000651750.1:c.1260+500del
ENST00000652487.1:c.3230del
ENST00000464408.3:n.234del
ENST00000484298.5:c.11933del	ENSP00000478155.1:p.Pro3978GlnfsTer10
ENST00000613296.4:c.12059del	ENSP00000482968.1:p.Pro4020GlnfsTer10
ENST00000620466.4:n.5862del
NM_015120.4:c.12062del , LRG_741t1:c.12062del	NP_055935.4:p.Pro4021GlnfsTer10
NM_001378454.1:c.12059del MANE Select	NP_001365383.1:p.Pro4020GlnfsTer10