Linked Data
ClinVar Variation Id:
230956
ClinVar RCV Id:
RCV003328284
dbSNP Id:
rs876658865
MyVariant Identifiers:
chr16:g.68772275_68772277delinsT (hg19)
chr16:g.68738372_68738374delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68738372_68738374delinsT , CM000678.2:g.68738372_68738374delinsT | GRCh38 |
| NC_000016.9:g.68772275_68772277delinsT , CM000678.1:g.68772275_68772277delinsT | GRCh37 |
| NC_000016.8:g.67329776_67329778delinsT | NCBI36 |
| NG_008021.1:g.6081_6083delinsT , LRG_301:g.6081_6083delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.124_126delinsT MANE Select | ENSP00000261769.4:p.Pro42SerfsTer16 | |
| ENST00000261769.9:c.124_126delinsT | ENSP00000261769.4:p.Pro42SerfsTer16 | |
| ENST00000422392.6:c.124_126delinsT | ENSP00000414946.2:p.Pro42SerfsTer16 | |
| ENST00000566510.5:c.124_126delinsT | ENSP00000458139.1:p.Pro42SerfsTer16 | |
| ENST00000566612.5:c.124_126delinsT | ENSP00000454782.1:p.Pro42SerfsTer16 | |
| ENST00000611625.4:c.124_126delinsT | ENSP00000481063.1:p.Pro42SerfsTer16 | |
| ENST00000612417.4:c.124_126delinsT | ENSP00000478360.1:p.Pro42SerfsTer16 | |
| ENST00000621016.4:c.124_126delinsT | ENSP00000480664.1:p.Pro42SerfsTer16 | |
| NM_004360.3:c.124_126delinsT , LRG_301t1:c.124_126delinsT | NP_004351.1:p.Pro42SerfsTer16 | |
| NM_001317184.1:c.124_126delinsT | NP_001304113.1:p.Pro42SerfsTer16 | |
| NM_001317185.1:c.-1492_-1490delinsT | NP_001304114.1:n.-1492_-1490delinsT | |
| NM_001317186.1:c.-1696_-1694delinsT | NP_001304115.1:n.-1696_-1694delinsT | |
| NM_004360.4:c.124_126delinsT | NP_004351.1:p.Pro42SerfsTer16 | |
| NM_004360.5:c.124_126delinsT MANE Select | NP_004351.1:p.Pro42SerfsTer16 | |
| NM_001317184.2:c.124_126delinsT | NP_001304113.1:p.Pro42SerfsTer16 | |
| NM_001317185.2:c.-1492_-1490delinsT | NP_001304114.1:n.-1492_-1490delinsT | |
| NM_001317186.2:c.-1696_-1694delinsT | NP_001304115.1:n.-1696_-1694delinsT |