Linked Data
ClinVar Variation Id:
1398324
dbSNP Id:
rs758498345
ExAC:
14:45658445 T / TA
gnomAD v2:
14-45658445-T-TA
gnomAD v3:
14-45189242-T-TA
gnomAD v4:
14-45189242-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45189243dup , CM000676.2:g.45189243dup | GRCh38 |
| NC_000014.8:g.45658446dup , CM000676.1:g.45658446dup | GRCh37 |
| NC_000014.7:g.44728196dup | NCBI36 |
| NG_007417.1:g.58311dup , LRG_502:g.58311dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000554809.6:c.3433dup | ENSP00000450632.2:p.Thr1145AsnfsTer14 | |
| ENST00000555484.2:c.999dup | ||
| ENST00000556250.6:c.5014dup | ENSP00000452033.2:p.Thr1672AsnfsTer14 | |
| ENST00000557110.2:c.999dup | ||
| ENST00000696642.1:c.*4032dup | ENSP00000512775.1:n.*4032dup | |
| ENST00000696645.1:n.1111dup | ||
| ENST00000696647.1:c.5221dup | ENSP00000512778.1:p.Thr1741AsnfsTer14 | |
| ENST00000696648.1:c.*3246dup | ENSP00000512779.1:n.*3246dup | |
| ENST00000696649.1:c.5065dup | ENSP00000512780.1:p.Thr1689AsnfsTer14 | |
| ENST00000696650.1:n.5169dup | ||
| ENST00000696659.1:c.3219dup | ||
| ENST00000696663.1:c.4152dup | ||
| ENST00000696664.1:c.4053dup | ||
| ENST00000696665.1:c.999dup | ||
| ENST00000696675.1:c.*977dup | ENSP00000512799.1:n.*977dup | |
| ENST00000696683.1:c.3968+70dup | ||
| ENST00000696684.1:c.4038dup | ||
| ENST00000696685.1:c.4038dup | ||
| ENST00000696686.1:n.1958dup | ||
| ENST00000267430.10:c.5221dup MANE Select | ENSP00000267430.5:p.Thr1741AsnfsTer14 | |
| ENST00000267430.9:c.5221dup | ENSP00000267430.5:p.Thr1741AsnfsTer14 | |
| ENST00000542564.6:c.5143dup | ENSP00000442493.2:p.Thr1715AsnfsTer14 | |
| ENST00000554809.5:c.2018dup | ||
| ENST00000556250.5:c.3769dup | ENSP00000452033.1:p.Thr1257AsnfsTer14 | |
| NM_001308133.1:c.5143dup | NP_001295062.1:p.Thr1715AsnfsTer14 | |
| NM_020937.2:c.5221dup , LRG_502t1:c.5221dup | NP_065988.1:p.Thr1741AsnfsTer14 | |
| NM_020937.3:c.5221dup | NP_065988.1:p.Thr1741AsnfsTer14 | |
| XM_011537034.1:c.5236dup | XP_011535336.1:p.Thr1746AsnfsTer14 | |
| XM_011537035.1:c.5158dup | XP_011535337.1:p.Thr1720AsnfsTer14 | |
| XM_011537036.1:c.5236dup | XP_011535338.1:p.Thr1746AsnfsTer14 | |
| XM_011537037.1:c.3250dup | XP_011535339.1:p.Thr1084AsnfsTer14 | |
| XM_011537034.2:c.5236dup | XP_011535336.1:p.Thr1746AsnfsTer14 | |
| XM_011537035.3:c.5158dup | XP_011535337.1:p.Thr1720AsnfsTer14 | |
| XM_011537037.3:c.3250dup | XP_011535339.1:p.Thr1084AsnfsTer14 | |
| XM_017021523.1:c.5236dup | XP_016877012.1:p.Thr1746AsnfsTer14 | |
| XM_017021524.2:c.4273dup | XP_016877013.1:p.Thr1425AsnfsTer14 | |
| XM_017021525.2:c.4051dup | XP_016877014.1:p.Thr1351AsnfsTer14 | |
| XM_017021526.2:c.4051dup | XP_016877015.1:p.Thr1351AsnfsTer14 | |
| XM_017021527.1:c.4036dup | XP_016877016.1:p.Thr1346AsnfsTer14 | |
| XR_001750470.1:n.5328dup | ||
| XR_001750471.2:n.5313dup | ||
| NM_020937.4:c.5221dup MANE Select | NP_065988.1:p.Thr1741AsnfsTer14 | |
| NM_001308133.2:c.5143dup | NP_001295062.1:p.Thr1715AsnfsTer14 |