Canonical Allele Identifier: CA1139657124

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 977963
• ClinVar RCV Id: RCV001255910
• dbSNP Id: rs1675682743

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601366del , CM000664.2:g.73601366del	GRCh38
NC_000002.11:g.73828493del , CM000664.1:g.73828493del	GRCh37
NC_000002.10:g.73682001del	NCBI36
NG_011690.1:g.220614del , LRG_741:g.220614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11663del	ENSP00000507671.1:p.Gly3888AlafsTer15
ENST00000682801.1:c.11167-819del	ENSP00000507862.1:n.11167-819del
ENST00000682859.1:c.11663del	ENSP00000508222.1:p.Gly3888AlafsTer15
ENST00000683791.1:c.4749del
ENST00000684460.1:c.8944del
ENST00000684548.1:c.11663del	ENSP00000507421.1:p.Gly3888AlafsTer15
ENST00000684590.1:c.6110del	ENSP00000507376.1:p.Gly2037AlafsTer15
ENST00000684656.1:c.9128del
ENST00000613296.6:c.12044del MANE Select	ENSP00000482968.1:p.Gly4015AlafsTer15
ENST00000651057.1:c.2198del	ENSP00000498504.1:p.Gly733AlafsTer15
ENST00000651434.1:c.3400del
ENST00000651750.1:c.1260+485del
ENST00000652487.1:c.3215del
ENST00000464408.3:n.219del
ENST00000484298.5:c.11918del	ENSP00000478155.1:p.Gly3973AlafsTer15
ENST00000613296.4:c.12044del	ENSP00000482968.1:p.Gly4015AlafsTer15
ENST00000620466.4:n.5847del
NM_015120.4:c.12047del , LRG_741t1:c.12047del	NP_055935.4:p.Gly4016AlafsTer15
NM_001378454.1:c.12044del MANE Select	NP_001365383.1:p.Gly4015AlafsTer15