Canonical Allele Identifier: CA2580068236

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1762199
• ClinVar RCV Id: RCV002421404

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490110_73490111del , CM000664.2:g.73490110_73490111del	GRCh38
NC_000002.11:g.73717237_73717238del , CM000664.1:g.73717237_73717238del	GRCh37
NC_000002.10:g.73570745_73570746del	NCBI36
NG_011690.1:g.109358_109359del , LRG_741:g.109358_109359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7770_7771del	ENSP00000507671.1:p.Ser2591IlefsTer6
ENST00000682801.1:c.7770_7771del	ENSP00000507862.1:p.Ser2591IlefsTer6
ENST00000682859.1:c.7770_7771del	ENSP00000508222.1:p.Ser2591IlefsTer6
ENST00000683791.1:c.1162_1163del
ENST00000684460.1:c.5222_5223del
ENST00000684548.1:c.7770_7771del	ENSP00000507421.1:p.Ser2591IlefsTer6
ENST00000684590.1:c.2217_2218del	ENSP00000507376.1:p.Ser740IlefsTer6
ENST00000684656.1:c.5222_5223del
ENST00000613296.6:c.8151_8152del MANE Select	ENSP00000482968.1:p.Ser2718IlefsTer6
ENST00000651434.1:c.896-29665_896-29664del
ENST00000423048.5:c.2982_2983del	ENSP00000399833.1:p.Ser995IlefsTer6
ENST00000484298.5:c.8025_8026del	ENSP00000478155.1:p.Ser2676IlefsTer6
ENST00000613296.4:c.8151_8152del	ENSP00000482968.1:p.Ser2718IlefsTer6
ENST00000614410.4:c.8151_8152del	ENSP00000479094.1:p.Ser2718IlefsTer6
ENST00000620466.4:n.1954_1955del
NM_015120.4:c.8154_8155del , LRG_741t1:c.8154_8155del	NP_055935.4:p.Ser2719IlefsTer6
NM_001378454.1:c.8151_8152del MANE Select	NP_001365383.1:p.Ser2718IlefsTer6