Linked Data
ClinVar Variation Id:
223224
ClinVar RCV Id:
RCV000208814
dbSNP Id:
rs869025661
COSMIC:
COSM18123
CIViC:
CA357050
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149794dup , CM000665.2:g.10149794dup | GRCh38 |
| NC_000003.11:g.10191478dup , CM000665.1:g.10191478dup | GRCh37 |
| NC_000003.10:g.10166478dup | NCBI36 |
| NG_008212.3:g.13160dup , LRG_322:g.13160dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*148dup | ENSP00000512434.1:n.*148dup | |
| ENST00000696143.1:c.607dup | ENSP00000512435.1:n.607dup | |
| ENST00000696153.1:c.582dup | ENSP00000512444.1:p.Leu195SerfsTer16 | |
| ENST00000256474.3:c.471dup MANE Select | ENSP00000256474.3:p.Leu158SerfsTer16 | |
| ENST00000256474.2:c.471dup | ENSP00000256474.2:p.Leu158SerfsTer16 | |
| ENST00000345392.2:c.348dup | ENSP00000344757.2:p.Leu117SerfsTer16 | |
| ENST00000477538.1:n.607dup | ||
| NM_000551.3:c.471dup , LRG_322t1:c.471dup | NP_000542.1:p.Leu158SerfsTer16 | |
| NM_198156.2:c.348dup | NP_937799.1:p.Leu117SerfsTer16 | |
| NM_001354723.1:c.*25dup | NP_001341652.1:n.*25dup | |
| NM_000551.4:c.471dup MANE Select | NP_000542.1:p.Leu158SerfsTer16 | |
| NM_001354723.2:c.*25dup | NP_001341652.1:n.*25dup | |
| NM_198156.3:c.348dup | NP_937799.1:p.Leu117SerfsTer16 |