Canonical Allele Identifier: CA915944042
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 556232
ClinVar RCV Id: RCV000672208
dbSNP Id: rs1553418457

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73572448_73572449insCACATAGAGA , CM000664.2:g.73572448_73572449insCACATAGAGA GRCh38
NC_000002.11:g.73799575_73799576insCACATAGAGA , CM000664.1:g.73799575_73799576insCACATAGAGA GRCh37
NC_000002.10:g.73653083_73653084insCACATAGAGA NCBI36
NG_011690.1:g.191696_191697insCACATAGAGA , LRG_741:g.191696_191697insCACATAGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.10190_10191insCACATAGAGA ENSP00000507671.1:p.Glu3397AspfsTer3
ENST00000682801.1:c.10190_10191insCACATAGAGA ENSP00000507862.1:p.Glu3397AspfsTer3
ENST00000682859.1:c.10190_10191insCACATAGAGA ENSP00000508222.1:p.Glu3397AspfsTer3
ENST00000683791.1:c.3276_3277insCACATAGAGA
ENST00000684460.1:c.7471_7472insCACATAGAGA
ENST00000684548.1:c.10190_10191insCACATAGAGA ENSP00000507421.1:p.Glu3397AspfsTer3
ENST00000684590.1:c.4637_4638insCACATAGAGA ENSP00000507376.1:p.Glu1546AspfsTer3
ENST00000684656.1:c.7516_7517insCACATAGAGA
ENST00000613296.6:c.10571_10572insCACATAGAGA MANE Select ENSP00000482968.1:p.Glu3524AspfsTer3
ENST00000651057.1:c.725_726insCACATAGAGA ENSP00000498504.1:p.Glu242AspfsTer3
ENST00000651434.1:c.1927_1928insCACATAGAGA
ENST00000652487.1:c.1668_1669insCACATAGAGA
ENST00000423048.5:c.4062_4063insCACATAGAGA ENSP00000399833.1:n.4062_4063insCACATAGAGA
ENST00000484298.5:c.10445_10446insCACATAGAGA ENSP00000478155.1:p.Glu3482AspfsTer3
ENST00000613296.4:c.10571_10572insCACATAGAGA ENSP00000482968.1:p.Glu3524AspfsTer3
ENST00000614410.4:c.10571_10572insCACATAGAGA ENSP00000479094.1:p.Glu3524AspfsTer3
ENST00000620466.4:n.4374_4375insCACATAGAGA
NM_015120.4:c.10574_10575insCACATAGAGA , LRG_741t1:c.10574_10575insCACATAGAGA NP_055935.4:p.Glu3525AspfsTer3
NM_001378454.1:c.10571_10572insCACATAGAGA MANE Select NP_001365383.1:p.Glu3524AspfsTer3