Canonical Allele Identifier: CA2577005007

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490006_73490013dup , CM000664.2:g.73490006_73490013dup	GRCh38
NC_000002.11:g.73717133_73717140dup , CM000664.1:g.73717133_73717140dup	GRCh37
NC_000002.10:g.73570641_73570648dup	NCBI36
NG_011690.1:g.109254_109261dup , LRG_741:g.109254_109261dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7666_7673dup	ENSP00000507671.1:p.Glu2558AspfsTer2
ENST00000682801.1:c.7666_7673dup	ENSP00000507862.1:p.Glu2558AspfsTer2
ENST00000682859.1:c.7666_7673dup	ENSP00000508222.1:p.Glu2558AspfsTer2
ENST00000683791.1:c.1058_1065dup
ENST00000684460.1:c.5118_5125dup
ENST00000684548.1:c.7666_7673dup	ENSP00000507421.1:p.Glu2558AspfsTer2
ENST00000684590.1:c.2113_2120dup	ENSP00000507376.1:p.Glu707AspfsTer2
ENST00000684656.1:c.5118_5125dup
ENST00000613296.6:c.8047_8054dup MANE Select	ENSP00000482968.1:p.Glu2685AspfsTer2
ENST00000651434.1:c.896-29769_896-29762dup
ENST00000423048.5:c.2878_2885dup	ENSP00000399833.1:p.Glu962AspfsTer2
ENST00000484298.5:c.7921_7928dup	ENSP00000478155.1:p.Glu2643AspfsTer2
ENST00000613296.4:c.8047_8054dup	ENSP00000482968.1:p.Glu2685AspfsTer2
ENST00000614410.4:c.8047_8054dup	ENSP00000479094.1:p.Glu2685AspfsTer2
ENST00000620466.4:n.1850_1857dup
NM_015120.4:c.8050_8057dup , LRG_741t1:c.8050_8057dup	NP_055935.4:p.Glu2686AspfsTer2
NM_001378454.1:c.8047_8054dup MANE Select	NP_001365383.1:p.Glu2685AspfsTer2