Linked Data
dbSNP Id:
rs770547965
ExAC:
14:45654440 AG / A
gnomAD v2:
14-45654440-AG-A
gnomAD v4:
14-45185237-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45185238del , CM000676.2:g.45185238del | GRCh38 |
| NC_000014.8:g.45654441del , CM000676.1:g.45654441del | GRCh37 |
| NC_000014.7:g.44724191del | NCBI36 |
| NG_007417.1:g.54306del , LRG_502:g.54306del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000554809.6:c.2749del | ENSP00000450632.2:p.Asp917MetfsTer? | |
| ENST00000555484.2:c.315del | ||
| ENST00000556250.6:c.4330del | ENSP00000452033.2:p.Asp1444MetfsTer? | |
| ENST00000557110.2:c.315del | ||
| ENST00000696642.1:c.*3348del | ENSP00000512775.1:n.*3348del | |
| ENST00000696644.1:n.273del | ||
| ENST00000696645.1:n.427del | ||
| ENST00000696647.1:c.4537del | ENSP00000512778.1:p.Asp1513MetfsTer? | |
| ENST00000696648.1:c.*2562del | ENSP00000512779.1:n.*2562del | |
| ENST00000696649.1:c.4381del | ENSP00000512780.1:p.Asp1461MetfsTer? | |
| ENST00000696650.1:n.4485del | ||
| ENST00000696659.1:c.2535del | ||
| ENST00000696663.1:c.3468del | ||
| ENST00000696664.1:c.3369del | ||
| ENST00000696665.1:c.315del | ||
| ENST00000696675.1:c.*293del | ENSP00000512799.1:n.*293del | |
| ENST00000696683.1:c.3354del | ||
| ENST00000696684.1:c.3354del | ||
| ENST00000696685.1:c.3354del | ||
| ENST00000696686.1:n.1274del | ||
| ENST00000267430.10:c.4537del MANE Select | ENSP00000267430.5:p.Asp1513MetfsTer? | |
| ENST00000267430.9:c.4537del | ENSP00000267430.5:p.Asp1513MetfsTer? | |
| ENST00000542564.6:c.4459del | ENSP00000442493.2:p.Asp1487MetfsTer? | |
| ENST00000554809.5:c.1334del | ||
| ENST00000555013.1:n.370del | ||
| ENST00000556250.5:c.3085del | ENSP00000452033.1:p.Asp1029MetfsTer? | |
| NM_001308133.1:c.4459del | NP_001295062.1:p.Asp1487MetfsTer? | |
| NM_020937.2:c.4537del , LRG_502t1:c.4537del | NP_065988.1:p.Asp1513MetfsTer? | |
| NM_020937.3:c.4537del | NP_065988.1:p.Asp1513MetfsTer? | |
| XM_011537034.1:c.4552del | XP_011535336.1:p.Asp1518MetfsTer? | |
| XM_011537035.1:c.4474del | XP_011535337.1:p.Asp1492MetfsTer? | |
| XM_011537036.1:c.4552del | XP_011535338.1:p.Asp1518MetfsTer? | |
| XM_011537037.1:c.2566del | XP_011535339.1:p.Asp856MetfsTer? | |
| XM_011537034.2:c.4552del | XP_011535336.1:p.Asp1518MetfsTer? | |
| XM_011537035.3:c.4474del | XP_011535337.1:p.Asp1492MetfsTer? | |
| XM_011537037.3:c.2566del | XP_011535339.1:p.Asp856MetfsTer? | |
| XM_017021523.1:c.4552del | XP_016877012.1:p.Asp1518MetfsTer? | |
| XM_017021524.2:c.3589del | XP_016877013.1:p.Asp1197MetfsTer? | |
| XM_017021525.2:c.3367del | XP_016877014.1:p.Asp1123MetfsTer? | |
| XM_017021526.2:c.3367del | XP_016877015.1:p.Asp1123MetfsTer? | |
| XM_017021527.1:c.3352del | XP_016877016.1:p.Asp1118MetfsTer? | |
| XR_001750470.1:n.4644del | ||
| XR_001750471.2:n.4629del | ||
| XR_001750472.1:n.4681del | ||
| NM_020937.4:c.4537del MANE Select | NP_065988.1:p.Asp1513MetfsTer? | |
| NM_001308133.2:c.4459del | NP_001295062.1:p.Asp1487MetfsTer? |