Canonical Allele Identifier: CA915944024

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 817824
• ClinVar RCV Id: RCV001009044 ; RCV002497333
• dbSNP Id: rs1182262187

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490076_73490077delinsG , CM000664.2:g.73490076_73490077delinsG	GRCh38
NC_000002.11:g.73717203_73717204delinsG , CM000664.1:g.73717203_73717204delinsG	GRCh37
NC_000002.10:g.73570711_73570712delinsG	NCBI36
NG_011690.1:g.109324_109325delinsG , LRG_741:g.109324_109325delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7736_7737delinsG	ENSP00000507671.1:p.Glu2579GlyfsTer3
ENST00000682801.1:c.7736_7737delinsG	ENSP00000507862.1:p.Glu2579GlyfsTer3
ENST00000682859.1:c.7736_7737delinsG	ENSP00000508222.1:p.Glu2579GlyfsTer3
ENST00000683791.1:c.1128_1129delinsG
ENST00000684460.1:c.5188_5189delinsG
ENST00000684548.1:c.7736_7737delinsG	ENSP00000507421.1:p.Glu2579GlyfsTer3
ENST00000684590.1:c.2183_2184delinsG	ENSP00000507376.1:p.Glu728GlyfsTer3
ENST00000684656.1:c.5188_5189delinsG
ENST00000613296.6:c.8117_8118delinsG MANE Select	ENSP00000482968.1:p.Glu2706GlyfsTer3
ENST00000651434.1:c.896-29699_896-29698delinsG
ENST00000423048.5:c.2948_2949delinsG	ENSP00000399833.1:p.Glu983GlyfsTer3
ENST00000484298.5:c.7991_7992delinsG	ENSP00000478155.1:p.Glu2664GlyfsTer3
ENST00000613296.4:c.8117_8118delinsG	ENSP00000482968.1:p.Glu2706GlyfsTer3
ENST00000614410.4:c.8117_8118delinsG	ENSP00000479094.1:p.Glu2706GlyfsTer3
ENST00000620466.4:n.1920_1921delinsG
NM_015120.4:c.8120_8121delinsG , LRG_741t1:c.8120_8121delinsG	NP_055935.4:p.Glu2707GlyfsTer3
NM_001378454.1:c.8117_8118delinsG MANE Select	NP_001365383.1:p.Glu2706GlyfsTer3