Linked Data
dbSNP Id:
rs779510276
ExAC:
16:68844278 AAG / A
gnomAD v2:
16-68844278-AAG-A
gnomAD v3:
16-68810375-AAG-A
gnomAD v4:
16-68810375-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68810377_68810378del , CM000678.2:g.68810377_68810378del | GRCh38 |
| NC_000016.9:g.68844280_68844281del , CM000678.1:g.68844280_68844281del | GRCh37 |
| NC_000016.8:g.67401781_67401782del | NCBI36 |
| NG_008021.1:g.78086_78087del , LRG_301:g.78086_78087del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.832+36_832+37del MANE Select | ENSP00000261769.4:n.832+36_832+37del | |
| ENST00000261769.9:c.832+36_832+37del | ENSP00000261769.4:n.832+36_832+37del | |
| ENST00000422392.6:c.832+36_832+37del | ENSP00000414946.2:n.832+36_832+37del | |
| ENST00000561751.1:c.455-1307_455-1306del | ||
| ENST00000562836.5:n.903+36_903+37del | ||
| ENST00000566510.5:c.676+36_676+37del | ENSP00000458139.1:n.676+36_676+37del | |
| ENST00000566612.5:c.832+36_832+37del | ENSP00000454782.1:n.832+36_832+37del | |
| ENST00000611625.4:c.832+36_832+37del | ENSP00000481063.1:n.832+36_832+37del | |
| ENST00000612417.4:c.832+36_832+37del | ENSP00000478360.1:n.832+36_832+37del | |
| ENST00000621016.4:c.832+36_832+37del | ENSP00000480664.1:n.832+36_832+37del | |
| NM_004360.3:c.832+36_832+37del , LRG_301t1:c.832+36_832+37del | NP_004351.1:n.832+36_832+37del | |
| XM_011523488.1:c.97+36_97+37del | XP_011521790.1:n.97+36_97+37del | |
| XM_011523489.1:c.97+36_97+37del | XP_011521791.1:n.97+36_97+37del | |
| NM_001317184.1:c.832+36_832+37del | NP_001304113.1:n.832+36_832+37del | |
| NM_001317185.1:c.-784+36_-784+37del | NP_001304114.1:n.-784+36_-784+37del | |
| NM_001317186.1:c.-988+36_-988+37del | NP_001304115.1:n.-988+36_-988+37del | |
| NM_004360.4:c.832+36_832+37del | NP_004351.1:n.832+36_832+37del | |
| NM_004360.5:c.832+36_832+37del MANE Select | NP_004351.1:n.832+36_832+37del | |
| NM_001317184.2:c.832+36_832+37del | NP_001304113.1:n.832+36_832+37del | |
| NM_001317185.2:c.-784+36_-784+37del | NP_001304114.1:n.-784+36_-784+37del | |
| NM_001317186.2:c.-988+36_-988+37del | NP_001304115.1:n.-988+36_-988+37del |