Canonical Allele Identifier: CA2586964955

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572772dup , CM000664.2:g.73572772dup	GRCh38
NC_000002.11:g.73799899dup , CM000664.1:g.73799899dup	GRCh37
NC_000002.10:g.73653407dup	NCBI36
NG_011690.1:g.192020dup , LRG_741:g.192020dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10514dup	ENSP00000507671.1:p.Leu3505PhefsTer3
ENST00000682801.1:c.10514dup	ENSP00000507862.1:p.Leu3505PhefsTer3
ENST00000682859.1:c.10514dup	ENSP00000508222.1:p.Leu3505PhefsTer3
ENST00000683791.1:c.3600dup
ENST00000684460.1:c.7795dup
ENST00000684548.1:c.10514dup	ENSP00000507421.1:p.Leu3505PhefsTer3
ENST00000684590.1:c.4961dup	ENSP00000507376.1:p.Leu1654PhefsTer3
ENST00000684656.1:c.7840dup
ENST00000613296.6:c.10895dup MANE Select	ENSP00000482968.1:p.Leu3632PhefsTer3
ENST00000651057.1:c.1049dup	ENSP00000498504.1:p.Leu350PhefsTer3
ENST00000651434.1:c.2251dup
ENST00000651750.1:c.283dup
ENST00000652487.1:c.1992dup
ENST00000423048.5:c.4386dup	ENSP00000399833.1:n.4386dup
ENST00000484298.5:c.10769dup	ENSP00000478155.1:p.Leu3590PhefsTer3
ENST00000613296.4:c.10895dup	ENSP00000482968.1:p.Leu3632PhefsTer3
ENST00000614410.4:c.10895dup	ENSP00000479094.1:p.Leu3632PhefsTer3
ENST00000620466.4:n.4698dup
NM_015120.4:c.10898dup , LRG_741t1:c.10898dup	NP_055935.4:p.Leu3633PhefsTer3
NM_001378454.1:c.10895dup MANE Select	NP_001365383.1:p.Leu3632PhefsTer3