Linked Data
ClinVar Variation Id:
1628565
ClinVar RCV Id:
RCV002116196
dbSNP Id:
rs755771895
ExAC:
12:102190440 CA / C
gnomAD v2:
12-102190440-CA-C
gnomAD v3:
12-101796662-CA-C
gnomAD v4:
12-101796662-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101796666del , CM000674.2:g.101796666del | GRCh38 |
| NC_000012.11:g.102190444del , CM000674.1:g.102190444del | GRCh37 |
| NC_000012.10:g.100714575del | NCBI36 |
| NG_021243.1:g.39205del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.203+14del MANE Select | ENSP00000299314.7:n.203+14del | |
| ENST00000647144.1:n.323+14del | ||
| ENST00000299314.11:c.203+14del | ENSP00000299314.7:n.203+14del | |
| ENST00000392919.4:c.203+14del | ENSP00000376651.4:n.203+14del | |
| ENST00000549165.1:c.*10del | ENSP00000450413.1:n.*10del | |
| ENST00000549940.5:c.203+14del | ENSP00000449150.1:n.203+14del | |
| NM_024312.4:c.203+14del | NP_077288.2:n.203+14del | |
| XM_006719593.2:c.203+14del | XP_006719656.1:n.203+14del | |
| XM_011538731.1:c.122+14del | XP_011537033.1:n.122+14del | |
| XM_006719593.3:c.203+14del | XP_006719656.1:n.203+14del | |
| XM_011538731.2:c.122+14del | XP_011537033.1:n.122+14del | |
| XM_017019961.1:c.-14+14del | XP_016875450.1:n.-14+14del | |
| XM_017019962.2:c.-1148+14del | XP_016875451.1:n.-1148+14del | |
| NM_024312.5:c.203+14del MANE Select | NP_077288.2:n.203+14del |