Canonical Allele Identifier: CA2586969425

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2734230
• ClinVar RCV Id: RCV003504512
• gnomAD v4: 2-73489727-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489728dup , CM000664.2:g.73489728dup	GRCh38
NC_000002.11:g.73716855dup , CM000664.1:g.73716855dup	GRCh37
NC_000002.10:g.73570363dup	NCBI36
NG_011690.1:g.108976dup , LRG_741:g.108976dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7388dup	ENSP00000507671.1:p.Thr2464AsnfsTer3
ENST00000682801.1:c.7388dup	ENSP00000507862.1:p.Thr2464AsnfsTer3
ENST00000682859.1:c.7388dup	ENSP00000508222.1:p.Thr2464AsnfsTer3
ENST00000683791.1:c.780dup
ENST00000684460.1:c.4840dup
ENST00000684548.1:c.7388dup	ENSP00000507421.1:p.Thr2464AsnfsTer3
ENST00000684590.1:c.1835dup	ENSP00000507376.1:p.Thr613AsnfsTer3
ENST00000684656.1:c.4840dup
ENST00000613296.6:c.7769dup MANE Select	ENSP00000482968.1:p.Thr2591AsnfsTer3
ENST00000651434.1:c.896-30047dup
ENST00000423048.5:c.2600dup	ENSP00000399833.1:p.Thr868AsnfsTer3
ENST00000484298.5:c.7643dup	ENSP00000478155.1:p.Thr2549AsnfsTer3
ENST00000613296.4:c.7769dup	ENSP00000482968.1:p.Thr2591AsnfsTer3
ENST00000614410.4:c.7769dup	ENSP00000479094.1:p.Thr2591AsnfsTer3
ENST00000620466.4:n.1572dup
NM_015120.4:c.7772dup , LRG_741t1:c.7772dup	NP_055935.4:p.Thr2592AsnfsTer3
NM_001378454.1:c.7769dup MANE Select	NP_001365383.1:p.Thr2591AsnfsTer3