Linked Data
dbSNP Id:
rs749717901
ExAC:
15:75012939 CGT / C
gnomAD v2:
15-75012939-CGT-C
gnomAD v4:
15-74720598-CGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720599_74720600del , CM000677.2:g.74720599_74720600del | GRCh38 |
| NC_000015.9:g.75012940_75012941del , CM000677.1:g.75012940_75012941del | GRCh37 |
| NC_000015.8:g.72799993_72799994del | NCBI36 |
| NG_008431.1:g.3058_3059del | |
| NG_008431.2:g.3058_3059del | |
| NG_061374.1:g.9929_9930del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.1428_1429del MANE Select | ENSP00000369050.3:p.Arg477GlyfsTer27 | |
| ENST00000379727.7:c.1428_1429del | ENSP00000369050.3:p.Arg477GlyfsTer27 | |
| ENST00000395048.6:c.1428_1429del | ENSP00000378488.2:p.Arg477GlyfsTer27 | |
| ENST00000395049.8:c.1341_1342del | ENSP00000378489.4:p.Arg448GlyfsTer27 | |
| ENST00000567032.5:c.1428_1429del | ENSP00000456585.1:p.Arg477GlyfsTer27 | |
| ENST00000612821.4:c.1344_1345del | ENSP00000479744.1:p.Arg449GlyfsTer27 | |
| ENST00000617691.4:c.1341_1342del | ENSP00000482863.1:p.Arg448GlyfsTer27 | |
| NM_000499.3:c.1428_1429del | NP_000490.1:p.Arg477GlyfsTer27 | |
| XM_005254185.1:c.1428_1429del | XP_005254242.1:p.Arg477GlyfsTer27 | |
| NM_000499.5:c.1428_1429del | NP_000490.1:p.Arg477GlyfsTer27 | |
| NM_001319216.2:c.1341_1342del | NP_001306145.1:p.Arg448GlyfsTer27 | |
| NM_001319217.2:c.1428_1429del MANE Select | NP_001306146.1:p.Arg477GlyfsTer27 |