Canonical Allele Identifier: CA913090806

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717233dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490106dup , CM000664.2:g.73490106dup	GRCh38
NC_000002.11:g.73717233dup , CM000664.1:g.73717233dup	GRCh37
NC_000002.10:g.73570741dup	NCBI36
NG_011690.1:g.109354dup , LRG_741:g.109354dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7766dup	ENSP00000507671.1:p.Ser2591PhefsTer7
ENST00000682801.1:c.7766dup	ENSP00000507862.1:p.Ser2591PhefsTer7
ENST00000682859.1:c.7766dup	ENSP00000508222.1:p.Ser2591PhefsTer7
ENST00000683791.1:c.1158dup
ENST00000684460.1:c.5218dup
ENST00000684548.1:c.7766dup	ENSP00000507421.1:p.Ser2591PhefsTer7
ENST00000684590.1:c.2213dup	ENSP00000507376.1:p.Ser740PhefsTer7
ENST00000684656.1:c.5218dup
ENST00000613296.6:c.8147dup MANE Select	ENSP00000482968.1:p.Ser2718PhefsTer7
ENST00000651434.1:c.896-29669dup
ENST00000423048.5:c.2978dup	ENSP00000399833.1:p.Ser995PhefsTer7
ENST00000484298.5:c.8021dup	ENSP00000478155.1:p.Ser2676PhefsTer7
ENST00000613296.4:c.8147dup	ENSP00000482968.1:p.Ser2718PhefsTer7
ENST00000614410.4:c.8147dup	ENSP00000479094.1:p.Ser2718PhefsTer7
ENST00000620466.4:n.1950dup
NM_015120.4:c.8150dup , LRG_741t1:c.8150dup	NP_055935.4:p.Ser2719PhefsTer7
NM_001378454.1:c.8147dup MANE Select	NP_001365383.1:p.Ser2718PhefsTer7