Linked Data
dbSNP Id:
rs35566564
gnomAD v3:
16-68829959-C-CTTTTTTTTTTTTTTTT
gnomAD v4:
16-68829959-C-CTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829974_68829975insTTTTTTTTTTTTTTTT , CM000678.2:g.68829974_68829975insTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000016.9:g.68863877_68863878insTTTTTTTTTTTTTTTT , CM000678.1:g.68863877_68863878insTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000016.8:g.67421378_67421379insTTTTTTTTTTTTTTTT | NCBI36 |
| NG_008021.1:g.97683_97684insTTTTTTTTTTTTTTTT , LRG_301:g.97683_97684insTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2439+177_2439+178insTTTTTTTTTTTTTTTT MANE Select | ENSP00000261769.4:n.2439+177_2439+178insTTTTTTTTTTTTTTTT | |
| ENST00000261769.9:c.2439+177_2439+178insTTTTTTTTTTTTTTTT | ENSP00000261769.4:n.2439+177_2439+178insTTTTTTTTTTTTTTTT | |
| ENST00000422392.6:c.2256+177_2256+178insTTTTTTTTTTTTTTTT | ENSP00000414946.2:n.2256+177_2256+178insTTTTTTTTTTTTTTTT | |
| ENST00000562118.1:n.657+177_657+178insTTTTTTTTTTTTTTTT | ||
| ENST00000562836.5:n.2510+177_2510+178insTTTTTTTTTTTTTTTT | ||
| ENST00000566510.5:c.*1105+177_*1105+178insTTTTTTTTTTTTTTTT | ENSP00000458139.1:n.*1105+177_*1105+178insTTTTTTTTTTTTTTTT | |
| ENST00000566612.5:c.*679+177_*679+178insTTTTTTTTTTTTTTTT | ENSP00000454782.1:n.*679+177_*679+178insTTTTTTTTTTTTTTTT | |
| ENST00000611625.4:c.2502+177_2502+178insTTTTTTTTTTTTTTTT | ENSP00000481063.1:n.2502+177_2502+178insTTTTTTTTTTTTTTTT | |
| ENST00000612417.4:c.1853+3420_1853+3421insTTTTTTTTTTTTTTTT | ENSP00000478360.1:n.1853+3420_1853+3421insTTTTTTTTTTTTTTTT | |
| ENST00000621016.4:c.1866-4229_1866-4228insTTTTTTTTTTTTTTTT | ENSP00000480664.1:n.1866-4229_1866-4228insTTTTTTTTTTTTTTTT | |
| NM_004360.3:c.2439+177_2439+178insTTTTTTTTTTTTTTTT , LRG_301t1:c.2439+177_2439+178insTTTTTTTTTTTTTTTT | NP_004351.1:n.2439+177_2439+178insTTTTTTTTTTTTTTTT | |
| XM_011523488.1:c.1704+177_1704+178insTTTTTTTTTTTTTTTT | XP_011521790.1:n.1704+177_1704+178insTTTTTTTTTTTTTTTT | |
| XM_011523489.1:c.1704+177_1704+178insTTTTTTTTTTTTTTTT | XP_011521791.1:n.1704+177_1704+178insTTTTTTTTTTTTTTTT | |
| NM_001317184.1:c.2256+177_2256+178insTTTTTTTTTTTTTTTT | NP_001304113.1:n.2256+177_2256+178insTTTTTTTTTTTTTTTT | |
| NM_001317185.1:c.891+177_891+178insTTTTTTTTTTTTTTTT | NP_001304114.1:n.891+177_891+178insTTTTTTTTTTTTTTTT | |
| NM_001317186.1:c.474+177_474+178insTTTTTTTTTTTTTTTT | NP_001304115.1:n.474+177_474+178insTTTTTTTTTTTTTTTT | |
| NM_004360.4:c.2439+177_2439+178insTTTTTTTTTTTTTTTT | NP_004351.1:n.2439+177_2439+178insTTTTTTTTTTTTTTTT | |
| NM_004360.5:c.2439+177_2439+178insTTTTTTTTTTTTTTTT MANE Select | NP_004351.1:n.2439+177_2439+178insTTTTTTTTTTTTTTTT | |
| NM_001317184.2:c.2256+177_2256+178insTTTTTTTTTTTTTTTT | NP_001304113.1:n.2256+177_2256+178insTTTTTTTTTTTTTTTT | |
| NM_001317185.2:c.891+177_891+178insTTTTTTTTTTTTTTTT | NP_001304114.1:n.891+177_891+178insTTTTTTTTTTTTTTTT | |
| NM_001317186.2:c.474+177_474+178insTTTTTTTTTTTTTTTT | NP_001304115.1:n.474+177_474+178insTTTTTTTTTTTTTTTT |