Linked Data
dbSNP Id:
rs1892826974
gnomAD v3:
15-34257406-CAGTTGA-C
gnomAD v4:
15-34257406-CAGTTGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34257410_34257415del , CM000677.2:g.34257410_34257415del | GRCh38 |
| NC_000015.9:g.34549611_34549616del , CM000677.1:g.34549611_34549616del | GRCh37 |
| NC_000015.8:g.32336903_32336908del | NCBI36 |
| NG_007951.1:g.85653_85658del , LRG_270:g.85653_85658del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.690+230_690+235del MANE Select | ENSP00000346112.3:n.690+230_690+235del | |
| ENST00000675289.1:n.1472+230_1472+235del | ||
| ENST00000676379.1:c.690+230_690+235del | ENSP00000502539.1:n.690+230_690+235del | |
| ENST00000290209.9:c.537+230_537+235del | ENSP00000290209.5:n.537+230_537+235del | |
| ENST00000354181.7:c.690+230_690+235del | ENSP00000346112.3:n.690+230_690+235del | |
| ENST00000397702.6:c.513+230_513+235del | ENSP00000380814.2:n.513+230_513+235del | |
| ENST00000397707.6:c.645+230_645+235del | ENSP00000380819.2:n.645+230_645+235del | |
| ENST00000458406.6:c.513+230_513+235del | ENSP00000387725.2:n.513+230_513+235del | |
| ENST00000558589.5:c.663+230_663+235del | ENSP00000452776.1:n.663+230_663+235del | |
| ENST00000558667.5:c.690+230_690+235del | ENSP00000453473.1:n.690+230_690+235del | |
| ENST00000559523.5:c.513+230_513+235del | ENSP00000452904.1:n.513+230_513+235del | |
| ENST00000559664.5:c.690+230_690+235del | ENSP00000453702.1:n.690+230_690+235del | |
| ENST00000560164.5:c.127-1129_127-1124del | ENSP00000452705.1:n.127-1129_127-1124del | |
| ENST00000560332.1:c.273+230_273+235del | ENSP00000454037.1:n.273+230_273+235del | |
| ENST00000560611.5:c.690+230_690+235del | ENSP00000454168.1:n.690+230_690+235del | |
| ENST00000561080.5:c.690+230_690+235del | ENSP00000454069.1:n.690+230_690+235del | |
| NM_001042494.1:c.513+230_513+235del | NP_001035959.1:n.513+230_513+235del | |
| NM_001042495.1:c.513+230_513+235del | NP_001035960.1:n.513+230_513+235del | |
| NM_001042496.1:c.663+230_663+235del | NP_001035961.1:n.663+230_663+235del | |
| NM_001042497.1:c.645+230_645+235del | NP_001035962.1:n.645+230_645+235del | |
| NM_005135.2:c.537+230_537+235del , LRG_270t1:c.537+230_537+235del | NP_005126.1:n.537+230_537+235del | |
| NM_133647.1:c.690+230_690+235del , LRG_270t2:c.690+230_690+235del | NP_598408.1:n.690+230_690+235del | |
| XM_006720793.2:c.544-1129_544-1124del | XP_006720856.1:n.544-1129_544-1124del | |
| XM_011522267.1:c.690+230_690+235del | XP_011520569.1:n.690+230_690+235del | |
| XM_011522268.1:c.690+230_690+235del | XP_011520570.1:n.690+230_690+235del | |
| XM_011522269.1:c.690+230_690+235del | XP_011520571.1:n.690+230_690+235del | |
| XR_429476.2:n.696+230_696+235del | ||
| XR_931960.1:n.696+230_696+235del | ||
| XR_931961.1:n.696+230_696+235del | ||
| NM_001365088.1:c.690+230_690+235del MANE Select | NP_001352017.1:n.690+230_690+235del | |
| XM_006720793.4:c.544-1129_544-1124del | XP_006720856.1:n.544-1129_544-1124del | |
| XM_011522269.3:c.690+230_690+235del | XP_011520571.1:n.690+230_690+235del | |
| XR_931960.3:n.1940+230_1940+235del | ||
| NM_001042494.2:c.513+230_513+235del | NP_001035959.1:n.513+230_513+235del | |
| NM_001042495.2:c.513+230_513+235del | NP_001035960.1:n.513+230_513+235del | |
| NM_001042496.2:c.663+230_663+235del | NP_001035961.1:n.663+230_663+235del | |
| NM_001042497.2:c.645+230_645+235del | NP_001035962.1:n.645+230_645+235del | |
| NM_133647.2:c.690+230_690+235del | NP_598408.1:n.690+230_690+235del |