Canonical Allele Identifier: CA085175
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 369864
ClinVar RCV Id: RCV000408888
dbSNP Id: rs774615547

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089564_11089565insTTCCT , CM000681.2:g.11089564_11089565insTTCCT GRCh38
NC_000019.9:g.11200240_11200241insTTCCT , CM000681.1:g.11200240_11200241insTTCCT GRCh37
NC_000019.8:g.11061240_11061241insTTCCT NCBI36
NG_009060.1:g.5184_5185insTTCCT , LRG_274:g.5184_5185insTTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559340.2:c.16_17insTTCCT (LDLR) ENSP00000453696.2:p.Trp6PhefsTer?
ENST00000560467.2:c.16_17insTTCCT (LDLR) ENSP00000453513.2:p.Trp6PhefsTer?
ENST00000558518.6:c.16_17insTTCCT (LDLR) MANE Select ENSP00000454071.1:p.Trp6PhefsTer?
ENST00000455727.6:c.16_17insTTCCT (LDLR) ENSP00000397829.2:p.Trp6PhefsTer?
ENST00000535915.5:c.16_17insTTCCT (LDLR) ENSP00000440520.1:p.Trp6PhefsTer?
ENST00000545707.5:c.16_17insTTCCT (LDLR) ENSP00000437639.1:p.Trp6PhefsTer?
ENST00000557933.5:c.16_17insTTCCT (LDLR) ENSP00000453557.1:p.Trp6PhefsTer?
ENST00000557958.1:n.102_103insTTCCT (LDLR)
ENST00000558013.5:c.16_17insTTCCT (LDLR) ENSP00000453346.1:p.Trp6PhefsTer?
ENST00000558518.5:c.16_17insTTCCT (LDLR) ENSP00000454071.1:p.Trp6PhefsTer?
ENST00000560502.5:n.102_103insTTCCT (LDLR)
NM_000527.4:c.16_17insTTCCT , LRG_274t1:c.16_17insTTCCT (LDLR) NP_000518.1:p.Trp6PhefsTer?
NM_001195798.1:c.16_17insTTCCT (LDLR) NP_001182727.1:p.Trp6PhefsTer?
NM_001195799.1:c.16_17insTTCCT (LDLR) NP_001182728.1:p.Trp6PhefsTer?
NM_001195800.1:c.16_17insTTCCT (LDLR) NP_001182729.1:p.Trp6PhefsTer?
NM_001195803.1:c.16_17insTTCCT (LDLR) NP_001182732.1:p.Trp6PhefsTer?
XM_011528010.1:c.16_17insTTCCT (LDLR) XP_011526312.1:p.Trp6PhefsTer?
XM_011528011.1:c.16_17insTTCCT (LDLR) XP_011526313.1:p.Trp6PhefsTer?
XR_244074.2:n.166_167insTTCCT (LDLR)
XM_011528010.2:c.16_17insTTCCT (LDLR) XP_011526312.1:p.Trp6PhefsTer?
XR_001753685.2:n.133_134insTTCCT (LDLR)
XR_001753686.2:n.133_134insTTCCT (LDLR)
NM_000527.5:c.16_17insTTCCT (LDLR) MANE Select NP_000518.1:p.Trp6PhefsTer?
NM_001195798.2:c.16_17insTTCCT (LDLR) NP_001182727.1:p.Trp6PhefsTer?
NM_001195799.2:c.16_17insTTCCT (LDLR) NP_001182728.1:p.Trp6PhefsTer?
NM_001195800.2:c.16_17insTTCCT (LDLR) NP_001182729.1:p.Trp6PhefsTer?
NM_001195803.2:c.16_17insTTCCT (LDLR) NP_001182732.1:p.Trp6PhefsTer?
NR_163945.1:n.97_98insGAAAG (LDLR-AS1)