Canonical Allele Identifier: CA892825667

Gene: ALMS1

Linked Data

• dbSNP Id: rs1164871086
• MyVariant Identifiers: chr2:g.73799530_73799531insT (hg19) ; chr2:g.73572403_73572404insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572405dup , CM000664.2:g.73572405dup	GRCh38
NC_000002.11:g.73799532dup , CM000664.1:g.73799532dup	GRCh37
NC_000002.10:g.73653040dup	NCBI36
NG_011690.1:g.191653dup , LRG_741:g.191653dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10147dup	ENSP00000507671.1:p.Ser3383PhefsTer14
ENST00000682801.1:c.10147dup	ENSP00000507862.1:p.Ser3383PhefsTer14
ENST00000682859.1:c.10147dup	ENSP00000508222.1:p.Ser3383PhefsTer14
ENST00000683791.1:c.3233dup
ENST00000684460.1:c.7428dup
ENST00000684548.1:c.10147dup	ENSP00000507421.1:p.Ser3383PhefsTer14
ENST00000684590.1:c.4594dup	ENSP00000507376.1:p.Ser1532PhefsTer14
ENST00000684656.1:c.7473dup
ENST00000613296.6:c.10528dup MANE Select	ENSP00000482968.1:p.Ser3510PhefsTer14
ENST00000651057.1:c.682dup	ENSP00000498504.1:p.Ser228PhefsTer14
ENST00000651434.1:c.1884dup
ENST00000652487.1:c.1625dup
ENST00000423048.5:c.4019dup	ENSP00000399833.1:n.4019dup
ENST00000484298.5:c.10402dup	ENSP00000478155.1:p.Ser3468PhefsTer14
ENST00000613296.4:c.10528dup	ENSP00000482968.1:p.Ser3510PhefsTer14
ENST00000614410.4:c.10528dup	ENSP00000479094.1:p.Ser3510PhefsTer14
ENST00000620466.4:n.4331dup
NM_015120.4:c.10531dup , LRG_741t1:c.10531dup	NP_055935.4:p.Ser3511PhefsTer14
NM_001378454.1:c.10528dup MANE Select	NP_001365383.1:p.Ser3510PhefsTer14