Canonical Allele Identifier: CA1261022104

Gene: ALMS1

Linked Data

• dbSNP Id: rs1674969953

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572905_73572906del , CM000664.2:g.73572905_73572906del	GRCh38
NC_000002.11:g.73800032_73800033del , CM000664.1:g.73800032_73800033del	GRCh37
NC_000002.10:g.73653540_73653541del	NCBI36
NG_011690.1:g.192153_192154del , LRG_741:g.192153_192154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10647_10648del	ENSP00000507671.1:p.Lys3550AlafsTer3
ENST00000682801.1:c.10647_10648del	ENSP00000507862.1:p.Lys3550AlafsTer3
ENST00000682859.1:c.10647_10648del	ENSP00000508222.1:p.Lys3550AlafsTer3
ENST00000683791.1:c.3733_3734del
ENST00000684460.1:c.7928_7929del
ENST00000684548.1:c.10647_10648del	ENSP00000507421.1:p.Lys3550AlafsTer3
ENST00000684590.1:c.5094_5095del	ENSP00000507376.1:p.Lys1699AlafsTer3
ENST00000684656.1:c.7973_7974del
ENST00000613296.6:c.11028_11029del MANE Select	ENSP00000482968.1:p.Lys3677AlafsTer3
ENST00000651057.1:c.1182_1183del	ENSP00000498504.1:p.Lys395AlafsTer3
ENST00000651434.1:c.2384_2385del
ENST00000651750.1:c.416_417del
ENST00000652487.1:c.2125_2126del
ENST00000423048.5:c.4519_4520del	ENSP00000399833.1:n.4519_4520del
ENST00000484298.5:c.10902_10903del	ENSP00000478155.1:p.Lys3635AlafsTer3
ENST00000613296.4:c.11028_11029del	ENSP00000482968.1:p.Lys3677AlafsTer3
ENST00000614410.4:c.11028_11029del	ENSP00000479094.1:p.Lys3677AlafsTer3
ENST00000620466.4:n.4831_4832del
NM_015120.4:c.11031_11032del , LRG_741t1:c.11031_11032del	NP_055935.4:p.Lys3678AlafsTer3
NM_001378454.1:c.11028_11029del MANE Select	NP_001365383.1:p.Lys3677AlafsTer3