Linked Data
dbSNP Id:
rs1789967174
gnomAD v3:
6-157148553-AAAAGTATTTC-A
gnomAD v4:
6-157148553-AAAAGTATTTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157148554_157148563del , CM000668.2:g.157148554_157148563del | GRCh38 |
| NC_000006.11:g.157469688_157469697del , CM000668.1:g.157469688_157469697del | GRCh37 |
| NC_000006.10:g.157511380_157511389del | NCBI36 |
| NG_032093.1:g.375625_375634del | |
| NG_032093.2:g.375625_375634del | |
| NG_066624.1:g.377529_377538del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2762-70_2762-61del | ENSP00000055163.8:n.2762-70_2762-61del | |
| ENST00000414678.8:c.2672-70_2672-61del | ENSP00000412835.3:n.2672-70_2672-61del | |
| ENST00000637015.2:c.2762-70_2762-61del | ENSP00000489729.2:n.2762-70_2762-61del | |
| ENST00000319584.11:c.776-70_776-61del | ENSP00000313006.7:n.776-70_776-61del | |
| ENST00000346085.10:c.2801-70_2801-61del | ENSP00000344546.5:n.2801-70_2801-61del | |
| ENST00000350026.10:c.2513-70_2513-61del | ENSP00000055163.7:n.2513-70_2513-61del | |
| ENST00000414678.7:c.920-70_920-61del | ENSP00000412835.2:n.920-70_920-61del | |
| ENST00000452544.2:n.663-70_663-61del | ||
| ENST00000635849.1:c.83-70_83-61del | ENSP00000490948.1:n.83-70_83-61del | |
| ENST00000636930.2:c.2762-70_2762-61del MANE Select | ENSP00000490491.2:n.2762-70_2762-61del | |
| ENST00000637810.1:c.263-70_263-61del | ENSP00000489636.1:n.263-70_263-61del | |
| ENST00000637904.1:c.263-70_263-61del | ENSP00000490550.1:n.263-70_263-61del | |
| ENST00000647938.1:c.2552-70_2552-61del | ENSP00000498155.1:n.2552-70_2552-61del | |
| ENST00000674190.1:n.1511-70_1511-61del | ||
| ENST00000319584.10:c.779-70_779-61del | ENSP00000313006.6:n.779-70_779-61del | |
| ENST00000346085.9:c.2552-70_2552-61del | ENSP00000344546.4:n.2552-70_2552-61del | |
| ENST00000350026.9:c.2513-70_2513-61del | ENSP00000055163.7:n.2513-70_2513-61del | |
| ENST00000414678.6:c.920-70_920-61del | ENSP00000412835.2:n.920-70_920-61del | |
| ENST00000452544.1:n.609-70_609-61del | ||
| NM_017519.2:c.2513-70_2513-61del | NP_059989.2:n.2513-70_2513-61del | |
| NM_020732.3:c.2552-70_2552-61del | NP_065783.3:n.2552-70_2552-61del | |
| XM_005267069.3:c.2513-70_2513-61del | XP_005267126.2:n.2513-70_2513-61del | |
| XM_011535984.1:c.1463-70_1463-61del | XP_011534286.1:n.1463-70_1463-61del | |
| XM_011535985.1:c.1283-70_1283-61del | XP_011534287.1:n.1283-70_1283-61del | |
| XM_011535986.1:c.1043-70_1043-61del | XP_011534288.1:n.1043-70_1043-61del | |
| XM_011535987.1:c.662-70_662-61del | XP_011534289.1:n.662-70_662-61del | |
| XM_011535988.1:c.-20+15347_-20+15356del | XP_011534290.1:n.-20+15347_-20+15356del | |
| NM_001346813.1:c.2513-70_2513-61del | NP_001333742.1:n.2513-70_2513-61del | |
| NM_001363725.1:c.263-70_263-61del | NP_001350654.1:n.263-70_263-61del | |
| XM_011535984.2:c.2594-70_2594-61del | XP_011534286.2:n.2594-70_2594-61del | |
| XM_011535988.3:c.-20+15347_-20+15356del | XP_011534290.1:n.-20+15347_-20+15356del | |
| XM_017011103.2:c.2594-70_2594-61del | XP_016866592.1:n.2594-70_2594-61del | |
| XM_017011104.1:c.2594-70_2594-61del | XP_016866593.1:n.2594-70_2594-61del | |
| XM_017011105.2:c.2594-70_2594-61del | XP_016866594.1:n.2594-70_2594-61del | |
| XM_017011106.2:c.2594-70_2594-61del | XP_016866595.1:n.2594-70_2594-61del | |
| XM_017011107.2:c.2414-70_2414-61del | XP_016866596.1:n.2414-70_2414-61del | |
| XR_002956289.1:n.2677-70_2677-61del | ||
| NM_001363725.2:c.263-70_263-61del | NP_001350654.1:n.263-70_263-61del | |
| NM_001371656.1:c.2801-70_2801-61del | NP_001358585.1:n.2801-70_2801-61del | |
| NM_001374820.1:c.2801-70_2801-61del | NP_001361749.1:n.2801-70_2801-61del | |
| NM_001374828.1:c.2762-70_2762-61del MANE Select | NP_001361757.1:n.2762-70_2762-61del | |
| NM_017519.3:c.2762-70_2762-61del | NP_059989.3:n.2762-70_2762-61del |