Canonical Allele Identifier: CA2739271087

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2788370
• ClinVar RCV Id: RCV003609470

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490254dup , CM000664.2:g.73490254dup	GRCh38
NC_000002.11:g.73717381dup , CM000664.1:g.73717381dup	GRCh37
NC_000002.10:g.73570889dup	NCBI36
NG_011690.1:g.109502dup , LRG_741:g.109502dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7914dup	ENSP00000507671.1:p.Gln2639ThrfsTer10
ENST00000682801.1:c.7914dup	ENSP00000507862.1:p.Gln2639ThrfsTer10
ENST00000682859.1:c.7914dup	ENSP00000508222.1:p.Gln2639ThrfsTer10
ENST00000683791.1:c.1306dup
ENST00000684460.1:c.5366dup
ENST00000684548.1:c.7914dup	ENSP00000507421.1:p.Gln2639ThrfsTer10
ENST00000684590.1:c.2361dup	ENSP00000507376.1:p.Gln788ThrfsTer10
ENST00000684656.1:c.5366dup
ENST00000613296.6:c.8295dup MANE Select	ENSP00000482968.1:p.Gln2766ThrfsTer10
ENST00000651434.1:c.896-29521dup
ENST00000423048.5:c.3030+96dup	ENSP00000399833.1:n.3030+96dup
ENST00000484298.5:c.8169dup	ENSP00000478155.1:p.Gln2724ThrfsTer10
ENST00000613296.4:c.8295dup	ENSP00000482968.1:p.Gln2766ThrfsTer10
ENST00000614410.4:c.8295dup	ENSP00000479094.1:p.Gln2766ThrfsTer10
ENST00000620466.4:n.2098dup
NM_015120.4:c.8298dup , LRG_741t1:c.8298dup	NP_055935.4:p.Gln2767ThrfsTer10
NM_001378454.1:c.8295dup MANE Select	NP_001365383.1:p.Gln2766ThrfsTer10