Canonical Allele Identifier: CA2577005008

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2726167
• ClinVar RCV Id: RCV003504262

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490031del , CM000664.2:g.73490031del	GRCh38
NC_000002.11:g.73717158del , CM000664.1:g.73717158del	GRCh37
NC_000002.10:g.73570666del	NCBI36
NG_011690.1:g.109279del , LRG_741:g.109279del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7691del	ENSP00000507671.1:p.Pro2564LeufsTer18
ENST00000682801.1:c.7691del	ENSP00000507862.1:p.Pro2564LeufsTer18
ENST00000682859.1:c.7691del	ENSP00000508222.1:p.Pro2564LeufsTer18
ENST00000683791.1:c.1083del
ENST00000684460.1:c.5143del
ENST00000684548.1:c.7691del	ENSP00000507421.1:p.Pro2564LeufsTer18
ENST00000684590.1:c.2138del	ENSP00000507376.1:p.Pro713LeufsTer18
ENST00000684656.1:c.5143del
ENST00000613296.6:c.8072del MANE Select	ENSP00000482968.1:p.Pro2691LeufsTer18
ENST00000651434.1:c.896-29744del
ENST00000423048.5:c.2903del	ENSP00000399833.1:p.Pro968LeufsTer18
ENST00000484298.5:c.7946del	ENSP00000478155.1:p.Pro2649LeufsTer18
ENST00000613296.4:c.8072del	ENSP00000482968.1:p.Pro2691LeufsTer18
ENST00000614410.4:c.8072del	ENSP00000479094.1:p.Pro2691LeufsTer18
ENST00000620466.4:n.1875del
NM_015120.4:c.8075del , LRG_741t1:c.8075del	NP_055935.4:p.Pro2692LeufsTer18
NM_001378454.1:c.8072del MANE Select	NP_001365383.1:p.Pro2691LeufsTer18