Canonical Allele Identifier: CA2697548275

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2745820
• ClinVar RCV Id: RCV003502335

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489710del , CM000664.2:g.73489710del	GRCh38
NC_000002.11:g.73716837del , CM000664.1:g.73716837del	GRCh37
NC_000002.10:g.73570345del	NCBI36
NG_011690.1:g.108958del , LRG_741:g.108958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7370del	ENSP00000507671.1:p.Lys2457ArgfsTer7
ENST00000682801.1:c.7370del	ENSP00000507862.1:p.Lys2457ArgfsTer7
ENST00000682859.1:c.7370del	ENSP00000508222.1:p.Lys2457ArgfsTer7
ENST00000683791.1:c.762del
ENST00000684460.1:c.4822del
ENST00000684548.1:c.7370del	ENSP00000507421.1:p.Lys2457ArgfsTer7
ENST00000684590.1:c.1817del	ENSP00000507376.1:p.Lys606ArgfsTer7
ENST00000684656.1:c.4822del
ENST00000613296.6:c.7751del MANE Select	ENSP00000482968.1:p.Lys2584ArgfsTer7
ENST00000651434.1:c.896-30065del
ENST00000423048.5:c.2582del	ENSP00000399833.1:p.Lys861ArgfsTer7
ENST00000484298.5:c.7625del	ENSP00000478155.1:p.Lys2542ArgfsTer7
ENST00000613296.4:c.7751del	ENSP00000482968.1:p.Lys2584ArgfsTer7
ENST00000614410.4:c.7751del	ENSP00000479094.1:p.Lys2584ArgfsTer7
ENST00000620466.4:n.1554del
NM_015120.4:c.7754del , LRG_741t1:c.7754del	NP_055935.4:p.Lys2585ArgfsTer7
NM_001378454.1:c.7751del MANE Select	NP_001365383.1:p.Lys2584ArgfsTer7