Canonical Allele Identifier: CA2580068172

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2017703
• ClinVar RCV Id: RCV002856963

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572737del , CM000664.2:g.73572737del	GRCh38
NC_000002.11:g.73799864del , CM000664.1:g.73799864del	GRCh37
NC_000002.10:g.73653372del	NCBI36
NG_011690.1:g.191985del , LRG_741:g.191985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10479del	ENSP00000507671.1:p.Glu3495AsnfsTer?
ENST00000682801.1:c.10479del	ENSP00000507862.1:p.Glu3495AsnfsTer?
ENST00000682859.1:c.10479del	ENSP00000508222.1:p.Glu3495AsnfsTer?
ENST00000683791.1:c.3565del
ENST00000684460.1:c.7760del
ENST00000684548.1:c.10479del	ENSP00000507421.1:p.Glu3495AsnfsTer?
ENST00000684590.1:c.4926del	ENSP00000507376.1:p.Glu1644AsnfsTer?
ENST00000684656.1:c.7805del
ENST00000613296.6:c.10860del MANE Select	ENSP00000482968.1:p.Glu3622AsnfsTer?
ENST00000651057.1:c.1014del	ENSP00000498504.1:p.Glu340AsnfsTer?
ENST00000651434.1:c.2216del
ENST00000651750.1:c.248del
ENST00000652487.1:c.1957del
ENST00000423048.5:c.4351del	ENSP00000399833.1:n.4351del
ENST00000484298.5:c.10734del	ENSP00000478155.1:p.Glu3580AsnfsTer?
ENST00000613296.4:c.10860del	ENSP00000482968.1:p.Glu3622AsnfsTer?
ENST00000614410.4:c.10860del	ENSP00000479094.1:p.Glu3622AsnfsTer?
ENST00000620466.4:n.4663del
NM_015120.4:c.10863del , LRG_741t1:c.10863del	NP_055935.4:p.Glu3623AsnfsTer?
NM_001378454.1:c.10860del MANE Select	NP_001365383.1:p.Glu3622AsnfsTer?