Canonical Allele Identifier: CA2573135798

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1403381
• ClinVar RCV Id: RCV001909022
• dbSNP Id: rs2104103586

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572298del , CM000664.2:g.73572298del	GRCh38
NC_000002.11:g.73799425del , CM000664.1:g.73799425del	GRCh37
NC_000002.10:g.73652933del	NCBI36
NG_011690.1:g.191546del , LRG_741:g.191546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10040del	ENSP00000507671.1:p.Arg3347LeufsTer?
ENST00000682801.1:c.10040del	ENSP00000507862.1:p.Arg3347LeufsTer?
ENST00000682859.1:c.10040del	ENSP00000508222.1:p.Arg3347LeufsTer?
ENST00000683791.1:c.3126del
ENST00000684460.1:c.7321del
ENST00000684548.1:c.10040del	ENSP00000507421.1:p.Arg3347LeufsTer?
ENST00000684590.1:c.4487del	ENSP00000507376.1:p.Arg1496LeufsTer?
ENST00000684656.1:c.7366del
ENST00000613296.6:c.10421del MANE Select	ENSP00000482968.1:p.Arg3474LeufsTer?
ENST00000651057.1:c.575del	ENSP00000498504.1:p.Arg192LeufsTer?
ENST00000651434.1:c.1777del
ENST00000652487.1:c.1518del
ENST00000423048.5:c.3912del	ENSP00000399833.1:n.3912del
ENST00000484298.5:c.10295del	ENSP00000478155.1:p.Arg3432LeufsTer?
ENST00000613296.4:c.10421del	ENSP00000482968.1:p.Arg3474LeufsTer?
ENST00000614410.4:c.10421del	ENSP00000479094.1:p.Arg3474LeufsTer?
ENST00000620466.4:n.4224del
NM_015120.4:c.10424del , LRG_741t1:c.10424del	NP_055935.4:p.Arg3475LeufsTer?
NM_001378454.1:c.10421del MANE Select	NP_001365383.1:p.Arg3474LeufsTer?