Linked Data
ClinVar Variation Id:
369864
ClinVar RCV Id:
RCV000408888
dbSNP Id:
rs774615547
ExAC:
19:11200238 G / GCTTTC
gnomAD v2:
19-11200238-G-GCTTTC
gnomAD v4:
19-11089562-G-GCTTTC
MyVariant Identifiers:
chr19:g.11200238_11200239insCTTTC (hg19)
chr19:g.11089562_11089563insCTTTC (hg38)
PubMed:
PMID:27765764
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) |