Canonical Allele Identifier: CA2573135804

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1455559
• ClinVar RCV Id: RCV001958642
• dbSNP Id: rs2104104628

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572545del , CM000664.2:g.73572545del	GRCh38
NC_000002.11:g.73799672del , CM000664.1:g.73799672del	GRCh37
NC_000002.10:g.73653180del	NCBI36
NG_011690.1:g.191793del , LRG_741:g.191793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10287del	ENSP00000507671.1:p.Asn3429LysfsTer4
ENST00000682801.1:c.10287del	ENSP00000507862.1:p.Asn3429LysfsTer4
ENST00000682859.1:c.10287del	ENSP00000508222.1:p.Asn3429LysfsTer4
ENST00000683791.1:c.3373del
ENST00000684460.1:c.7568del
ENST00000684548.1:c.10287del	ENSP00000507421.1:p.Asn3429LysfsTer4
ENST00000684590.1:c.4734del	ENSP00000507376.1:p.Asn1578LysfsTer4
ENST00000684656.1:c.7613del
ENST00000613296.6:c.10668del MANE Select	ENSP00000482968.1:p.Asn3556LysfsTer4
ENST00000651057.1:c.822del	ENSP00000498504.1:p.Asn274LysfsTer4
ENST00000651434.1:c.2024del
ENST00000651750.1:c.56del
ENST00000652487.1:c.1765del
ENST00000423048.5:c.4159del	ENSP00000399833.1:n.4159del
ENST00000484298.5:c.10542del	ENSP00000478155.1:p.Asn3514LysfsTer4
ENST00000613296.4:c.10668del	ENSP00000482968.1:p.Asn3556LysfsTer4
ENST00000614410.4:c.10668del	ENSP00000479094.1:p.Asn3556LysfsTer4
ENST00000620466.4:n.4471del
NM_015120.4:c.10671del , LRG_741t1:c.10671del	NP_055935.4:p.Asn3557LysfsTer4
NM_001378454.1:c.10668del MANE Select	NP_001365383.1:p.Asn3556LysfsTer4