Linked Data
ClinVar Variation Id:
919994
ClinVar RCV Id:
RCV001178474
dbSNP Id:
rs2077055015
gnomAD v4:
19-11089408-TCCTCCCCCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089410_11089419del , CM000681.2:g.11089410_11089419del | GRCh38 |
| NC_000019.9:g.11200086_11200095del , CM000681.1:g.11200086_11200095del | GRCh37 |
| NC_000019.8:g.11061086_11061095del | NCBI36 |
| NG_009060.1:g.5030_5039del , LRG_274:g.5030_5039del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558518.5:c.-139_-130del (LDLR) | ENSP00000454071.1:n.-139_-130del | |
| NM_000527.4:c.-139_-130del , LRG_274t1:c.-139_-130del (LDLR) | NP_000518.1:n.-139_-130del | |
| NM_001195798.1:c.-139_-130del (LDLR) | NP_001182727.1:n.-139_-130del | |
| NM_001195799.1:c.-139_-130del (LDLR) | NP_001182728.1:n.-139_-130del | |
| NM_001195800.1:c.-139_-130del (LDLR) | NP_001182729.1:n.-139_-130del | |
| NM_001195803.1:c.-139_-130del (LDLR) | NP_001182732.1:n.-139_-130del | |
| XM_011528010.1:c.-139_-130del (LDLR) | XP_011526312.1:n.-139_-130del | |
| XM_011528011.1:c.-139_-130del (LDLR) | XP_011526313.1:n.-139_-130del | |
| XR_244074.2:n.12_21del (LDLR) | ||
| NR_163945.1:n.242_251del (LDLR-AS1) |