Linked Data
ClinVar Variation Id:
53076
dbSNP Id:
rs397508120
MyVariant Identifiers:
chr11:g.2591965del (hg19)
chr11:g.2591964del (hg19)
chr11:g.2570735del (hg38)
chr11:g.2570734del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570735del , CM000673.2:g.2570735del | GRCh38 |
| NC_000011.9:g.2591965del , CM000673.1:g.2591965del | GRCh37 |
| NC_000011.8:g.2548541del | NCBI36 |
| NG_008935.1:g.130745del , LRG_287:g.130745del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.324del | ENSP00000434560.2:p.Lys109SerfsTer? | |
| ENST00000646564.2:c.478-12700del | ENSP00000495806.2:n.478-12700del | |
| ENST00000155840.12:c.585del MANE Select | ENSP00000155840.2:p.Lys196SerfsTer? | |
| ENST00000335475.6:c.204del | ENSP00000334497.5:p.Lys69SerfsTer? | |
| ENST00000646564.1:c.124-12700del | ENSP00000495806.1:n.124-12700del | |
| ENST00000155840.9:c.585del | ENSP00000155840.2:p.Lys196SerfsTer? | |
| ENST00000335475.5:c.204del | ENSP00000334497.5:p.Lys69SerfsTer? | |
| ENST00000496887.6:c.324del | ENSP00000434560.1:p.Lys109SerfsTer? | |
| NM_000218.2:c.585del , LRG_287t1:c.585del | NP_000209.2:p.Lys196SerfsTer? | |
| NM_181798.1:c.204del , LRG_287t2:c.204del | NP_861463.1:p.Lys69SerfsTer? | |
| NM_000218.3:c.585del MANE Select | NP_000209.2:p.Lys196SerfsTer? |