Canonical Allele Identifier: CA2739271097

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2850870
• ClinVar RCV Id: RCV003608927

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572753del , CM000664.2:g.73572753del	GRCh38
NC_000002.11:g.73799880del , CM000664.1:g.73799880del	GRCh37
NC_000002.10:g.73653388del	NCBI36
NG_011690.1:g.192001del , LRG_741:g.192001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10495del	ENSP00000507671.1:p.Val3499TrpfsTer?
ENST00000682801.1:c.10495del	ENSP00000507862.1:p.Val3499TrpfsTer?
ENST00000682859.1:c.10495del	ENSP00000508222.1:p.Val3499TrpfsTer?
ENST00000683791.1:c.3581del
ENST00000684460.1:c.7776del
ENST00000684548.1:c.10495del	ENSP00000507421.1:p.Val3499TrpfsTer?
ENST00000684590.1:c.4942del	ENSP00000507376.1:p.Val1648TrpfsTer?
ENST00000684656.1:c.7821del
ENST00000613296.6:c.10876del MANE Select	ENSP00000482968.1:p.Val3626TrpfsTer?
ENST00000651057.1:c.1030del	ENSP00000498504.1:p.Val344TrpfsTer?
ENST00000651434.1:c.2232del
ENST00000651750.1:c.264del
ENST00000652487.1:c.1973del
ENST00000423048.5:c.4367del	ENSP00000399833.1:n.4367del
ENST00000484298.5:c.10750del	ENSP00000478155.1:p.Val3584TrpfsTer?
ENST00000613296.4:c.10876del	ENSP00000482968.1:p.Val3626TrpfsTer?
ENST00000614410.4:c.10876del	ENSP00000479094.1:p.Val3626TrpfsTer?
ENST00000620466.4:n.4679del
NM_015120.4:c.10879del , LRG_741t1:c.10879del	NP_055935.4:p.Val3627TrpfsTer?
NM_001378454.1:c.10876del MANE Select	NP_001365383.1:p.Val3626TrpfsTer?