Canonical Allele Identifier: CA658822832

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 557247
• ClinVar RCV Id: RCV000673363
• dbSNP Id: rs1553418505
• MyVariant Identifiers: chr2:g.73572690dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572690dup , CM000664.2:g.73572690dup	GRCh38
NC_000002.11:g.73799817dup , CM000664.1:g.73799817dup	GRCh37
NC_000002.10:g.73653325dup	NCBI36
NG_011690.1:g.191938dup , LRG_741:g.191938dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10432dup	ENSP00000507671.1:p.Tyr3478LeufsTer12
ENST00000682801.1:c.10432dup	ENSP00000507862.1:p.Tyr3478LeufsTer12
ENST00000682859.1:c.10432dup	ENSP00000508222.1:p.Tyr3478LeufsTer12
ENST00000683791.1:c.3518dup
ENST00000684460.1:c.7713dup
ENST00000684548.1:c.10432dup	ENSP00000507421.1:p.Tyr3478LeufsTer12
ENST00000684590.1:c.4879dup	ENSP00000507376.1:p.Tyr1627LeufsTer12
ENST00000684656.1:c.7758dup
ENST00000613296.6:c.10813dup MANE Select	ENSP00000482968.1:p.Tyr3605LeufsTer12
ENST00000651057.1:c.967dup	ENSP00000498504.1:p.Tyr323LeufsTer12
ENST00000651434.1:c.2169dup
ENST00000651750.1:c.201dup
ENST00000652487.1:c.1910dup
ENST00000423048.5:c.4304dup	ENSP00000399833.1:n.4304dup
ENST00000484298.5:c.10687dup	ENSP00000478155.1:p.Tyr3563LeufsTer12
ENST00000613296.4:c.10813dup	ENSP00000482968.1:p.Tyr3605LeufsTer12
ENST00000614410.4:c.10813dup	ENSP00000479094.1:p.Tyr3605LeufsTer12
ENST00000620466.4:n.4616dup
NM_015120.4:c.10816dup , LRG_741t1:c.10816dup	NP_055935.4:p.Tyr3606LeufsTer12
NM_001378454.1:c.10813dup MANE Select	NP_001365383.1:p.Tyr3605LeufsTer12