Canonical Allele Identifier: CA1260981782

Gene: ALMS1

Linked Data

• dbSNP Id: rs1672949466

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490250_73490251dup , CM000664.2:g.73490250_73490251dup	GRCh38
NC_000002.11:g.73717377_73717378dup , CM000664.1:g.73717377_73717378dup	GRCh37
NC_000002.10:g.73570885_73570886dup	NCBI36
NG_011690.1:g.109498_109499dup , LRG_741:g.109498_109499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7910_7911dup	ENSP00000507671.1:p.Lys2638LeufsTer22
ENST00000682801.1:c.7910_7911dup	ENSP00000507862.1:p.Lys2638LeufsTer22
ENST00000682859.1:c.7910_7911dup	ENSP00000508222.1:p.Lys2638LeufsTer22
ENST00000683791.1:c.1302_1303dup
ENST00000684460.1:c.5362_5363dup
ENST00000684548.1:c.7910_7911dup	ENSP00000507421.1:p.Lys2638LeufsTer22
ENST00000684590.1:c.2357_2358dup	ENSP00000507376.1:p.Lys787LeufsTer22
ENST00000684656.1:c.5362_5363dup
ENST00000613296.6:c.8291_8292dup MANE Select	ENSP00000482968.1:p.Lys2765LeufsTer22
ENST00000651434.1:c.896-29525_896-29524dup
ENST00000423048.5:c.3030+92_3030+93dup	ENSP00000399833.1:n.3030+92_3030+93dup
ENST00000484298.5:c.8165_8166dup	ENSP00000478155.1:p.Lys2723LeufsTer22
ENST00000613296.4:c.8291_8292dup	ENSP00000482968.1:p.Lys2765LeufsTer22
ENST00000614410.4:c.8291_8292dup	ENSP00000479094.1:p.Lys2765LeufsTer22
ENST00000620466.4:n.2094_2095dup
NM_015120.4:c.8294_8295dup , LRG_741t1:c.8294_8295dup	NP_055935.4:p.Lys2766LeufsTer22
NM_001378454.1:c.8291_8292dup MANE Select	NP_001365383.1:p.Lys2765LeufsTer22