Canonical Allele Identifier: CA1714431

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1455375
• ClinVar RCV Id: RCV001958592
• dbSNP Id: rs748621056
• ExAC: 2:73717326 T / TG
• gnomAD v2: 2-73717326-T-TG
• gnomAD v3: 2-73490199-T-TG
• gnomAD v4: 2-73490199-T-TG
• MyVariant Identifiers: chr2:g.73717326_73717327insG (hg19) ; chr2:g.73490199_73490200insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490204dup , CM000664.2:g.73490204dup	GRCh38
NC_000002.11:g.73717331dup , CM000664.1:g.73717331dup	GRCh37
NC_000002.10:g.73570839dup	NCBI36
NG_011690.1:g.109452dup , LRG_741:g.109452dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7864dup	ENSP00000507671.1:p.Val2622GlyfsTer3
ENST00000682801.1:c.7864dup	ENSP00000507862.1:p.Val2622GlyfsTer3
ENST00000682859.1:c.7864dup	ENSP00000508222.1:p.Val2622GlyfsTer3
ENST00000683791.1:c.1256dup
ENST00000684460.1:c.5316dup
ENST00000684548.1:c.7864dup	ENSP00000507421.1:p.Val2622GlyfsTer3
ENST00000684590.1:c.2311dup	ENSP00000507376.1:p.Val771GlyfsTer3
ENST00000684656.1:c.5316dup
ENST00000613296.6:c.8245dup MANE Select	ENSP00000482968.1:p.Val2749GlyfsTer3
ENST00000651434.1:c.896-29571dup
ENST00000423048.5:c.3030+46dup	ENSP00000399833.1:n.3030+46dup
ENST00000484298.5:c.8119dup	ENSP00000478155.1:p.Val2707GlyfsTer3
ENST00000613296.4:c.8245dup	ENSP00000482968.1:p.Val2749GlyfsTer3
ENST00000614410.4:c.8245dup	ENSP00000479094.1:p.Val2749GlyfsTer3
ENST00000620466.4:n.2048dup
NM_015120.4:c.8248dup , LRG_741t1:c.8248dup	NP_055935.4:p.Val2750GlyfsTer3
NM_001378454.1:c.8245dup MANE Select	NP_001365383.1:p.Val2749GlyfsTer3