Linked Data
gnomAD v3:
16-68829953-C-CTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
16-68829953-C-CTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829958_68829959insTTTTTTTTTTTTTTTTTTTTTTTT , CM000678.2:g.68829958_68829959insTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000016.9:g.68863861_68863862insTTTTTTTTTTTTTTTTTTTTTTTT , CM000678.1:g.68863861_68863862insTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000016.8:g.67421362_67421363insTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_008021.1:g.97667_97668insTTTTTTTTTTTTTTTTTTTTTTTT , LRG_301:g.97667_97668insTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2439+161_2439+162insTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000261769.4:n.2439+161_2439+162insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000261769.9:c.2439+161_2439+162insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000261769.4:n.2439+161_2439+162insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000422392.6:c.2256+161_2256+162insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000414946.2:n.2256+161_2256+162insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000562118.1:n.657+161_657+162insTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000562836.5:n.2510+161_2510+162insTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000566510.5:c.*1105+161_*1105+162insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000458139.1:n.*1105+161_*1105+162insTTTTTTTTTTTTTTTTTTT... | |
| ENST00000566612.5:c.*679+161_*679+162insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000454782.1:n.*679+161_*679+162insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000611625.4:c.2502+161_2502+162insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000481063.1:n.2502+161_2502+162insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000612417.4:c.1853+3404_1853+3405insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000478360.1:n.1853+3404_1853+3405insTTTTTTTTTTTTTTTTTTT... | |
| ENST00000621016.4:c.1866-4245_1866-4244insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000480664.1:n.1866-4245_1866-4244insTTTTTTTTTTTTTTTTTTT... | |
| NM_004360.3:c.2439+161_2439+162insTTTTTTTTTTTTTTTTTTTTTTTT , LRG_301t1:c.2439+161_2439+162insTTTTTTTTTTTTTTTTTTTTTTTT | NP_004351.1:n.2439+161_2439+162insTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011523488.1:c.1704+161_1704+162insTTTTTTTTTTTTTTTTTTTTTTTT | XP_011521790.1:n.1704+161_1704+162insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_011523489.1:c.1704+161_1704+162insTTTTTTTTTTTTTTTTTTTTTTTT | XP_011521791.1:n.1704+161_1704+162insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001317184.1:c.2256+161_2256+162insTTTTTTTTTTTTTTTTTTTTTTTT | NP_001304113.1:n.2256+161_2256+162insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001317185.1:c.891+161_891+162insTTTTTTTTTTTTTTTTTTTTTTTT | NP_001304114.1:n.891+161_891+162insTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001317186.1:c.474+161_474+162insTTTTTTTTTTTTTTTTTTTTTTTT | NP_001304115.1:n.474+161_474+162insTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_004360.4:c.2439+161_2439+162insTTTTTTTTTTTTTTTTTTTTTTTT | NP_004351.1:n.2439+161_2439+162insTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_004360.5:c.2439+161_2439+162insTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_004351.1:n.2439+161_2439+162insTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001317184.2:c.2256+161_2256+162insTTTTTTTTTTTTTTTTTTTTTTTT | NP_001304113.1:n.2256+161_2256+162insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001317185.2:c.891+161_891+162insTTTTTTTTTTTTTTTTTTTTTTTT | NP_001304114.1:n.891+161_891+162insTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001317186.2:c.474+161_474+162insTTTTTTTTTTTTTTTTTTTTTTTT | NP_001304115.1:n.474+161_474+162insTTTTTTTTTTTTTTTTTTTTTTTT |