Canonical Allele Identifier: CA2573135760

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1455822
• ClinVar RCV Id: RCV001970128 ; RCV003156367
• dbSNP Id: rs2103890894

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490133_73490143del , CM000664.2:g.73490133_73490143del	GRCh38
NC_000002.11:g.73717260_73717270del , CM000664.1:g.73717260_73717270del	GRCh37
NC_000002.10:g.73570768_73570778del	NCBI36
NG_011690.1:g.109381_109391del , LRG_741:g.109381_109391del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7793_7803del	ENSP00000507671.1:p.Cys2598PhefsTer5
ENST00000682801.1:c.7793_7803del	ENSP00000507862.1:p.Cys2598PhefsTer5
ENST00000682859.1:c.7793_7803del	ENSP00000508222.1:p.Cys2598PhefsTer5
ENST00000683791.1:c.1185_1195del
ENST00000684460.1:c.5245_5255del
ENST00000684548.1:c.7793_7803del	ENSP00000507421.1:p.Cys2598PhefsTer5
ENST00000684590.1:c.2240_2250del	ENSP00000507376.1:p.Cys747PhefsTer5
ENST00000684656.1:c.5245_5255del
ENST00000613296.6:c.8174_8184del MANE Select	ENSP00000482968.1:p.Cys2725PhefsTer5
ENST00000651434.1:c.896-29642_896-29632del
ENST00000423048.5:c.3005_3015del	ENSP00000399833.1:p.Cys1002PhefsTer5
ENST00000484298.5:c.8048_8058del	ENSP00000478155.1:p.Cys2683PhefsTer5
ENST00000613296.4:c.8174_8184del	ENSP00000482968.1:p.Cys2725PhefsTer5
ENST00000614410.4:c.8174_8184del	ENSP00000479094.1:p.Cys2725PhefsTer5
ENST00000620466.4:n.1977_1987del
NM_015120.4:c.8177_8187del , LRG_741t1:c.8177_8187del	NP_055935.4:p.Cys2726PhefsTer5
NM_001378454.1:c.8174_8184del MANE Select	NP_001365383.1:p.Cys2725PhefsTer5