Linked Data
ClinVar Variation Id:
1530491
ClinVar RCV Id:
RCV002089727
dbSNP Id:
rs2152114312
gnomAD v4:
16-68738281-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68738284dup , CM000678.2:g.68738284dup | GRCh38 |
| NC_000016.9:g.68772187dup , CM000678.1:g.68772187dup | GRCh37 |
| NC_000016.8:g.67329688dup | NCBI36 |
| NG_008021.1:g.5993dup , LRG_301:g.5993dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.49-13dup MANE Select | ENSP00000261769.4:n.49-13dup | |
| ENST00000261769.9:c.49-13dup | ENSP00000261769.4:n.49-13dup | |
| ENST00000422392.6:c.49-13dup | ENSP00000414946.2:n.49-13dup | |
| ENST00000566510.5:c.49-13dup | ENSP00000458139.1:n.49-13dup | |
| ENST00000566612.5:c.49-13dup | ENSP00000454782.1:n.49-13dup | |
| ENST00000611625.4:c.49-13dup | ENSP00000481063.1:n.49-13dup | |
| ENST00000612417.4:c.49-13dup | ENSP00000478360.1:n.49-13dup | |
| ENST00000621016.4:c.49-13dup | ENSP00000480664.1:n.49-13dup | |
| NM_004360.3:c.49-13dup , LRG_301t1:c.49-13dup | NP_004351.1:n.49-13dup | |
| NM_001317184.1:c.49-13dup | NP_001304113.1:n.49-13dup | |
| NM_001317185.1:c.-1567-13dup | NP_001304114.1:n.-1567-13dup | |
| NM_001317186.1:c.-1771-13dup | NP_001304115.1:n.-1771-13dup | |
| NM_004360.4:c.49-13dup | NP_004351.1:n.49-13dup | |
| NM_004360.5:c.49-13dup MANE Select | NP_004351.1:n.49-13dup | |
| NM_001317184.2:c.49-13dup | NP_001304113.1:n.49-13dup | |
| NM_001317185.2:c.-1567-13dup | NP_001304114.1:n.-1567-13dup | |
| NM_001317186.2:c.-1771-13dup | NP_001304115.1:n.-1771-13dup |