Linked Data
ClinVar Variation Id:
587579
ClinVar RCV Id:
RCV000714803
dbSNP Id:
rs770070270
ExAC:
1:152281327 TGGA / T
gnomAD v2:
1-152281327-TGGA-T
gnomAD v3:
1-152308851-TGGA-T
gnomAD v4:
1-152308851-TGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152308853_152308855del , CM000663.2:g.152308853_152308855del | GRCh38 |
| NC_000001.10:g.152281329_152281331del , CM000663.1:g.152281329_152281331del | GRCh37 |
| NC_000001.9:g.150547953_150547955del | NCBI36 |
| NG_016190.1:g.21350_21352del , LRG_1028:g.21350_21352del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.6032_6034del MANE Select | ENSP00000357789.1:p.Leu2011del | |
| ENST00000368799.1:c.6032_6034del | ENSP00000357789.1:p.Leu2011del | |
| NM_002016.1:c.6032_6034del , LRG_1028t1:c.6032_6034del | NP_002007.1:p.Leu2011del | |
| XM_011509329.1:c.6032_6034del | XP_011507631.1:p.Leu2011del | |
| NM_002016.2:c.6032_6034del MANE Select | NP_002007.1:p.Leu2011del |