Linked Data
dbSNP Id:
rs1491053291
gnomAD v2:
16-68863860-TTC-T
gnomAD v3:
16-68829957-TTC-T
gnomAD v4:
16-68829957-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829959_68829960del , CM000678.2:g.68829959_68829960del | GRCh38 |
| NC_000016.9:g.68863862_68863863del , CM000678.1:g.68863862_68863863del | GRCh37 |
| NC_000016.8:g.67421363_67421364del | NCBI36 |
| NG_008021.1:g.97668_97669del , LRG_301:g.97668_97669del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2439+162_2439+163del MANE Select | ENSP00000261769.4:n.2439+162_2439+163del | |
| ENST00000261769.9:c.2439+162_2439+163del | ENSP00000261769.4:n.2439+162_2439+163del | |
| ENST00000422392.6:c.2256+162_2256+163del | ENSP00000414946.2:n.2256+162_2256+163del | |
| ENST00000562118.1:n.657+162_657+163del | ||
| ENST00000562836.5:n.2510+162_2510+163del | ||
| ENST00000566510.5:c.*1105+162_*1105+163del | ENSP00000458139.1:n.*1105+162_*1105+163del | |
| ENST00000566612.5:c.*679+162_*679+163del | ENSP00000454782.1:n.*679+162_*679+163del | |
| ENST00000611625.4:c.2502+162_2502+163del | ENSP00000481063.1:n.2502+162_2502+163del | |
| ENST00000612417.4:c.1853+3405_1853+3406del | ENSP00000478360.1:n.1853+3405_1853+3406del | |
| ENST00000621016.4:c.1866-4244_1866-4243del | ENSP00000480664.1:n.1866-4244_1866-4243del | |
| NM_004360.3:c.2439+162_2439+163del , LRG_301t1:c.2439+162_2439+163del | NP_004351.1:n.2439+162_2439+163del | |
| XM_011523488.1:c.1704+162_1704+163del | XP_011521790.1:n.1704+162_1704+163del | |
| XM_011523489.1:c.1704+162_1704+163del | XP_011521791.1:n.1704+162_1704+163del | |
| NM_001317184.1:c.2256+162_2256+163del | NP_001304113.1:n.2256+162_2256+163del | |
| NM_001317185.1:c.891+162_891+163del | NP_001304114.1:n.891+162_891+163del | |
| NM_001317186.1:c.474+162_474+163del | NP_001304115.1:n.474+162_474+163del | |
| NM_004360.4:c.2439+162_2439+163del | NP_004351.1:n.2439+162_2439+163del | |
| NM_004360.5:c.2439+162_2439+163del MANE Select | NP_004351.1:n.2439+162_2439+163del | |
| NM_001317184.2:c.2256+162_2256+163del | NP_001304113.1:n.2256+162_2256+163del | |
| NM_001317185.2:c.891+162_891+163del | NP_001304114.1:n.891+162_891+163del | |
| NM_001317186.2:c.474+162_474+163del | NP_001304115.1:n.474+162_474+163del |