Canonical Allele Identifier: CA1261034165

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1441753
• ClinVar RCV Id: RCV001979175
• dbSNP Id: rs1675685953
• gnomAD v4: 2-73601431-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601433dup , CM000664.2:g.73601433dup	GRCh38
NC_000002.11:g.73828560dup , CM000664.1:g.73828560dup	GRCh37
NC_000002.10:g.73682068dup	NCBI36
NG_011690.1:g.220681dup , LRG_741:g.220681dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11730dup	ENSP00000507671.1:p.Gln3911SerfsTer10
ENST00000682801.1:c.11167-752dup	ENSP00000507862.1:n.11167-752dup
ENST00000682859.1:c.11730dup	ENSP00000508222.1:p.Gln3911SerfsTer10
ENST00000683791.1:c.4816dup
ENST00000684460.1:c.9011dup
ENST00000684548.1:c.11730dup	ENSP00000507421.1:p.Gln3911SerfsTer10
ENST00000684590.1:c.6177dup	ENSP00000507376.1:p.Gln2060SerfsTer10
ENST00000684656.1:c.9195dup
ENST00000613296.6:c.12111dup MANE Select	ENSP00000482968.1:p.Gln4038SerfsTer10
ENST00000651057.1:c.2265dup	ENSP00000498504.1:p.Gln756SerfsTer10
ENST00000651434.1:c.3467dup
ENST00000651750.1:c.1260+552dup
ENST00000652487.1:c.3282dup
ENST00000464408.3:n.286dup
ENST00000484298.5:c.11985dup	ENSP00000478155.1:p.Gln3996SerfsTer10
ENST00000613296.4:c.12111dup	ENSP00000482968.1:p.Gln4038SerfsTer10
ENST00000620466.4:n.5914dup
NM_015120.4:c.12114dup , LRG_741t1:c.12114dup	NP_055935.4:p.Gln4039SerfsTer10
NM_001378454.1:c.12111dup MANE Select	NP_001365383.1:p.Gln4038SerfsTer10