Linked Data
dbSNP Id:
rs1192827752
gnomAD v2:
15-34549991-TAGAA-T
gnomAD v3:
15-34257790-TAGAA-T
gnomAD v4:
15-34257790-TAGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34257798_34257801del , CM000677.2:g.34257798_34257801del | GRCh38 |
| NC_000015.9:g.34549999_34550002del , CM000677.1:g.34549999_34550002del | GRCh37 |
| NC_000015.8:g.32337291_32337294del | NCBI36 |
| NG_007951.1:g.85271_85274del , LRG_270:g.85271_85274del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.544-6_544-3del MANE Select | ENSP00000346112.3:n.544-6_544-3del | |
| ENST00000675289.1:n.1326-6_1326-3del | ||
| ENST00000676379.1:c.544-6_544-3del | ENSP00000502539.1:n.544-6_544-3del | |
| ENST00000290209.9:c.391-6_391-3del | ENSP00000290209.5:n.391-6_391-3del | |
| ENST00000354181.7:c.544-6_544-3del | ENSP00000346112.3:n.544-6_544-3del | |
| ENST00000397702.6:c.367-6_367-3del | ENSP00000380814.2:n.367-6_367-3del | |
| ENST00000397707.6:c.499-6_499-3del | ENSP00000380819.2:n.499-6_499-3del | |
| ENST00000458406.6:c.367-6_367-3del | ENSP00000387725.2:n.367-6_367-3del | |
| ENST00000558589.5:c.517-6_517-3del | ENSP00000452776.1:n.517-6_517-3del | |
| ENST00000558667.5:c.544-6_544-3del | ENSP00000453473.1:n.544-6_544-3del | |
| ENST00000559523.5:c.367-6_367-3del | ENSP00000452904.1:n.367-6_367-3del | |
| ENST00000559664.5:c.544-6_544-3del | ENSP00000453702.1:n.544-6_544-3del | |
| ENST00000560164.5:c.126+1019_126+1022del | ENSP00000452705.1:n.126+1019_126+1022del | |
| ENST00000560332.1:c.127-6_127-3del | ENSP00000454037.1:n.127-6_127-3del | |
| ENST00000560611.5:c.544-6_544-3del | ENSP00000454168.1:n.544-6_544-3del | |
| ENST00000561080.5:c.544-6_544-3del | ENSP00000454069.1:n.544-6_544-3del | |
| NM_001042494.1:c.367-6_367-3del | NP_001035959.1:n.367-6_367-3del | |
| NM_001042495.1:c.367-6_367-3del | NP_001035960.1:n.367-6_367-3del | |
| NM_001042496.1:c.517-6_517-3del | NP_001035961.1:n.517-6_517-3del | |
| NM_001042497.1:c.499-6_499-3del | NP_001035962.1:n.499-6_499-3del | |
| NM_005135.2:c.391-6_391-3del , LRG_270t1:c.391-6_391-3del | NP_005126.1:n.391-6_391-3del | |
| NM_133647.1:c.544-6_544-3del , LRG_270t2:c.544-6_544-3del | NP_598408.1:n.544-6_544-3del | |
| XM_006720793.2:c.543+1019_543+1022del | XP_006720856.1:n.543+1019_543+1022del | |
| XM_011522267.1:c.544-6_544-3del | XP_011520569.1:n.544-6_544-3del | |
| XM_011522268.1:c.544-6_544-3del | XP_011520570.1:n.544-6_544-3del | |
| XM_011522269.1:c.544-6_544-3del | XP_011520571.1:n.544-6_544-3del | |
| XR_429476.2:n.550-6_550-3del | ||
| XR_931960.1:n.550-6_550-3del | ||
| XR_931961.1:n.550-6_550-3del | ||
| NM_001365088.1:c.544-6_544-3del MANE Select | NP_001352017.1:n.544-6_544-3del | |
| XM_006720793.4:c.543+1019_543+1022del | XP_006720856.1:n.543+1019_543+1022del | |
| XM_011522269.3:c.544-6_544-3del | XP_011520571.1:n.544-6_544-3del | |
| XR_931960.3:n.1794-6_1794-3del | ||
| NM_001042494.2:c.367-6_367-3del | NP_001035959.1:n.367-6_367-3del | |
| NM_001042495.2:c.367-6_367-3del | NP_001035960.1:n.367-6_367-3del | |
| NM_001042496.2:c.517-6_517-3del | NP_001035961.1:n.517-6_517-3del | |
| NM_001042497.2:c.499-6_499-3del | NP_001035962.1:n.499-6_499-3del | |
| NM_133647.2:c.544-6_544-3del | NP_598408.1:n.544-6_544-3del |