Canonical Allele Identifier: CA915944043

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 663965
• ClinVar RCV Id: RCV000821947
• dbSNP Id: rs1573030204

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572553del , CM000664.2:g.73572553del	GRCh38
NC_000002.11:g.73799680del , CM000664.1:g.73799680del	GRCh37
NC_000002.10:g.73653188del	NCBI36
NG_011690.1:g.191801del , LRG_741:g.191801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10295del	ENSP00000507671.1:p.Val3432GlyfsTer?
ENST00000682801.1:c.10295del	ENSP00000507862.1:p.Val3432GlyfsTer?
ENST00000682859.1:c.10295del	ENSP00000508222.1:p.Val3432GlyfsTer?
ENST00000683791.1:c.3381del
ENST00000684460.1:c.7576del
ENST00000684548.1:c.10295del	ENSP00000507421.1:p.Val3432GlyfsTer?
ENST00000684590.1:c.4742del	ENSP00000507376.1:p.Val1581GlyfsTer?
ENST00000684656.1:c.7621del
ENST00000613296.6:c.10676del MANE Select	ENSP00000482968.1:p.Val3559GlyfsTer?
ENST00000651057.1:c.830del	ENSP00000498504.1:p.Val277GlyfsTer?
ENST00000651434.1:c.2032del
ENST00000651750.1:c.64del
ENST00000652487.1:c.1773del
ENST00000423048.5:c.4167del	ENSP00000399833.1:n.4167del
ENST00000484298.5:c.10550del	ENSP00000478155.1:p.Val3517GlyfsTer?
ENST00000613296.4:c.10676del	ENSP00000482968.1:p.Val3559GlyfsTer?
ENST00000614410.4:c.10676del	ENSP00000479094.1:p.Val3559GlyfsTer?
ENST00000620466.4:n.4479del
NM_015120.4:c.10679del , LRG_741t1:c.10679del	NP_055935.4:p.Val3560GlyfsTer?
NM_001378454.1:c.10676del MANE Select	NP_001365383.1:p.Val3559GlyfsTer?