Linked Data
dbSNP Id:
rs757514844
ExAC:
10:70764809 GTCC / G
gnomAD v2:
10-70764809-GTCC-G
gnomAD v3:
10-69005053-GTCC-G
gnomAD v4:
10-69005053-GTCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69005059_69005061del , CM000672.2:g.69005059_69005061del | GRCh38 |
| NC_000010.10:g.70764815_70764817del , CM000672.1:g.70764815_70764817del | GRCh37 |
| NC_000010.9:g.70434821_70434823del | NCBI36 |
| NG_017061.1:g.21339_21341del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361983.7:c.539_541del MANE Select | ENSP00000354848.4:p.Pro180del | |
| ENST00000625461.2:n.569_571del | ||
| ENST00000626493.2:c.539_541del | ENSP00000486692.1:p.Pro180del | |
| ENST00000635779.2:c.539_541del | ENSP00000489663.1:p.Pro180del | |
| ENST00000635971.2:c.539_541del | ENSP00000489878.2:p.Pro180del | |
| ENST00000636200.2:c.539_541del | ENSP00000490113.2:p.Pro180del | |
| ENST00000637101.2:c.*112_*114del | ENSP00000490704.1:n.*112_*114del | |
| ENST00000637104.2:c.*108_*110del | ENSP00000490019.2:n.*108_*110del | |
| ENST00000637323.2:c.*180_*182del | ENSP00000489659.2:n.*180_*182del | |
| ENST00000637420.2:c.539_541del | ENSP00000490404.2:p.Pro180del | |
| ENST00000637738.2:c.539_541del | ENSP00000490742.2:p.Pro180del | |
| ENST00000638119.2:c.614_616del | ENSP00000490026.1:p.Pro205del | |
| ENST00000674660.1:c.526-38_526-36del | ENSP00000502562.1:n.526-38_526-36del | |
| ENST00000674688.1:n.569_571del | ||
| ENST00000674897.1:c.23_25del | ENSP00000502225.1:p.Pro8del | |
| ENST00000674936.1:c.539_541del | ENSP00000502484.1:p.Pro180del | |
| ENST00000675576.1:c.440_442del | ENSP00000502750.1:p.Pro147del | |
| ENST00000676080.1:c.*52_*54del | ENSP00000502706.1:n.*52_*54del | |
| ENST00000361983.6:c.539_541del | ENSP00000354848.4:p.Pro180del | |
| ENST00000625461.1:n.255_257del | ||
| ENST00000626493.1:c.539_541del | ENSP00000486692.1:p.Pro180del | |
| NM_015634.3:c.539_541del | NP_056449.1:p.Pro180del | |
| NM_015634.4:c.539_541del MANE Select | NP_056449.1:p.Pro180del |