Canonical Allele Identifier: CA10576327
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226383
dbSNP Id: rs875989937

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120409del , CM000681.2:g.11120409del GRCh38
NC_000019.9:g.11231085del , CM000681.1:g.11231085del GRCh37
NC_000019.8:g.11092085del NCBI36
NG_009060.1:g.36029del , LRG_274:g.36029del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2285del ENSP00000252444.6:p.Gly762AlafsTer?
ENST00000559340.2:c.*96del ENSP00000453696.2:n.*96del
ENST00000560467.2:c.1907del ENSP00000453513.2:p.Gly636AlafsTer?
ENST00000558518.6:c.2027del MANE Select ENSP00000454071.1:p.Gly676AlafsTer?
ENST00000252444.9:c.2281del
ENST00000455727.6:c.1523del ENSP00000397829.2:p.Gly508AlafsTer?
ENST00000535915.5:c.1904del ENSP00000440520.1:p.Gly635AlafsTer?
ENST00000545707.5:c.1606+176del ENSP00000437639.1:n.1606+176del
ENST00000557933.5:c.2027del ENSP00000453557.1:p.Gly676AlafsTer?
ENST00000558013.5:c.2027del ENSP00000453346.1:p.Gly676AlafsTer?
ENST00000558518.5:c.2027del ENSP00000454071.1:p.Gly676AlafsTer?
NM_000527.4:c.2027del , LRG_274t1:c.2027del NP_000518.1:p.Gly676AlafsTer?
NM_001195798.1:c.2027del NP_001182727.1:p.Gly676AlafsTer?
NM_001195799.1:c.1904del NP_001182728.1:p.Gly635AlafsTer?
NM_001195800.1:c.1523del NP_001182729.1:p.Gly508AlafsTer?
NM_001195803.1:c.1606+176del NP_001182732.1:n.1606+176del
XM_011528010.1:c.2027del XP_011526312.1:p.Gly676AlafsTer?
XM_011528011.1:c.1646del XP_011526313.1:p.Gly549AlafsTer?
XR_244074.2:n.2037del
XM_011528010.2:c.2027del XP_011526312.1:p.Gly676AlafsTer?
XR_001753685.2:n.2144del
XR_001753686.2:n.2004del
NM_000527.5:c.2027del MANE Select NP_000518.1:p.Gly676AlafsTer?
NM_001195798.2:c.2027del NP_001182727.1:p.Gly676AlafsTer?
NM_001195799.2:c.1904del NP_001182728.1:p.Gly635AlafsTer?
NM_001195800.2:c.1523del NP_001182729.1:p.Gly508AlafsTer?
NM_001195803.2:c.1606+176del NP_001182732.1:n.1606+176del