Linked Data
ClinVar Variation Id:
1297330
ClinVar RCV Id:
RCV001725034
dbSNP Id:
rs761383817
gnomAD v2:
16-68863847-TTTTTTTTTCTTTTTC-T
gnomAD v3:
16-68829944-TTTTTTTTTCTTTTTC-T
gnomAD v4:
16-68829944-TTTTTTTTTCTTTTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829953_68829967del , CM000678.2:g.68829953_68829967del | GRCh38 |
| NC_000016.9:g.68863856_68863870del , CM000678.1:g.68863856_68863870del | GRCh37 |
| NC_000016.8:g.67421357_67421371del | NCBI36 |
| NG_008021.1:g.97662_97676del , LRG_301:g.97662_97676del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2439+156_2439+170del MANE Select | ENSP00000261769.4:n.2439+156_2439+170del | |
| ENST00000261769.9:c.2439+156_2439+170del | ENSP00000261769.4:n.2439+156_2439+170del | |
| ENST00000422392.6:c.2256+156_2256+170del | ENSP00000414946.2:n.2256+156_2256+170del | |
| ENST00000562118.1:n.657+156_657+170del | ||
| ENST00000562836.5:n.2510+156_2510+170del | ||
| ENST00000566510.5:c.*1105+156_*1105+170del | ENSP00000458139.1:n.*1105+156_*1105+170del | |
| ENST00000566612.5:c.*679+156_*679+170del | ENSP00000454782.1:n.*679+156_*679+170del | |
| ENST00000611625.4:c.2502+156_2502+170del | ENSP00000481063.1:n.2502+156_2502+170del | |
| ENST00000612417.4:c.1853+3399_1853+3413del | ENSP00000478360.1:n.1853+3399_1853+3413del | |
| ENST00000621016.4:c.1866-4250_1866-4236del | ENSP00000480664.1:n.1866-4250_1866-4236del | |
| NM_004360.3:c.2439+156_2439+170del , LRG_301t1:c.2439+156_2439+170del | NP_004351.1:n.2439+156_2439+170del | |
| XM_011523488.1:c.1704+156_1704+170del | XP_011521790.1:n.1704+156_1704+170del | |
| XM_011523489.1:c.1704+156_1704+170del | XP_011521791.1:n.1704+156_1704+170del | |
| NM_001317184.1:c.2256+156_2256+170del | NP_001304113.1:n.2256+156_2256+170del | |
| NM_001317185.1:c.891+156_891+170del | NP_001304114.1:n.891+156_891+170del | |
| NM_001317186.1:c.474+156_474+170del | NP_001304115.1:n.474+156_474+170del | |
| NM_004360.4:c.2439+156_2439+170del | NP_004351.1:n.2439+156_2439+170del | |
| NM_004360.5:c.2439+156_2439+170del MANE Select | NP_004351.1:n.2439+156_2439+170del | |
| NM_001317184.2:c.2256+156_2256+170del | NP_001304113.1:n.2256+156_2256+170del | |
| NM_001317185.2:c.891+156_891+170del | NP_001304114.1:n.891+156_891+170del | |
| NM_001317186.2:c.474+156_474+170del | NP_001304115.1:n.474+156_474+170del |