Linked Data
ClinVar Variation Id:
579804
ClinVar RCV Id:
RCV000703176
dbSNP Id:
rs756029660
gnomAD v2:
14-24709675-TC-T
gnomAD v4:
14-24240469-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240475del , CM000676.2:g.24240475del | GRCh38 |
| NC_000014.8:g.24709681del , CM000676.1:g.24709681del | GRCh37 |
| NC_000014.7:g.23779521del | NCBI36 |
| NG_016650.1:g.7205del | |
| NG_054634.1:g.13059del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1313del | ||
| ENST00000557921.3:c.902del | ENSP00000453157.3:p.Gly301GlufsTer4 | |
| ENST00000699682.1:n.1400del | ||
| ENST00000699683.1:n.1450del | ||
| ENST00000699684.1:c.*603del | ENSP00000514523.1:n.*603del | |
| ENST00000699685.1:n.1214del | ||
| ENST00000699686.1:c.803del | ENSP00000514524.1:p.Gly268GlufsTer4 | |
| ENST00000699687.1:c.905del | ENSP00000514525.1:p.Gly302GlufsTer4 | |
| ENST00000699688.1:n.1210del | ||
| ENST00000699689.1:n.1566del | ||
| ENST00000699690.1:n.1763del | ||
| ENST00000699691.1:n.1907del | ||
| ENST00000699693.1:n.1427del | ||
| ENST00000699694.1:n.1669del | ||
| ENST00000699695.1:c.*382del | ENSP00000514526.1:n.*382del | |
| ENST00000699696.1:n.1313del | ||
| ENST00000699697.1:c.1010del | ENSP00000514527.1:p.Gly337GlufsTer4 | |
| ENST00000699698.1:n.931del | ||
| ENST00000699699.1:n.1334del | ||
| ENST00000699700.1:n.1457del | ||
| ENST00000699701.1:c.*390del | ENSP00000514528.1:n.*390del | |
| ENST00000267415.12:c.1010del MANE Select | ENSP00000267415.7:p.Gly337GlufsTer4 | |
| ENST00000646753.1:c.905del | ENSP00000494065.1:p.Gly302GlufsTer4 | |
| ENST00000267415.11:c.1010del | ENSP00000267415.7:p.Gly337GlufsTer4 | |
| ENST00000399423.8:c.1010del | ENSP00000382350.4:p.Gly337GlufsTer4 | |
| ENST00000557915.1:n.129del | ||
| ENST00000558566.1:c.*382del | ENSP00000453025.1:n.*382del | |
| ENST00000559969.5:c.768del | ||
| ENST00000626689.2:c.*382del | ENSP00000486681.1:n.*382del | |
| NM_001099274.1:c.1010del | NP_001092744.1:p.Gly337GlufsTer4 | |
| NM_012461.2:c.1010del | NP_036593.2:p.Gly337GlufsTer4 | |
| XM_005267528.2:c.1010del | XP_005267585.1:p.Gly337GlufsTer4 | |
| XM_005267529.2:c.905del | XP_005267586.1:p.Gly302GlufsTer4 | |
| NM_001099274.2:c.1010del | NP_001092744.1:p.Gly337GlufsTer4 | |
| NM_001363668.1:c.905del | NP_001350597.1:p.Gly302GlufsTer4 | |
| NM_012461.3:c.1010del | NP_036593.2:p.Gly337GlufsTer4 | |
| XM_011536642.2:c.*390del | XP_011534944.1:n.*390del | |
| XM_017021216.2:c.368del | XP_016876705.1:p.Gly123GlufsTer4 | |
| XM_017021217.1:c.368del | XP_016876706.1:p.Gly123GlufsTer4 | |
| NM_001099274.3:c.1010del MANE Select | NP_001092744.1:p.Gly337GlufsTer4 | |
| NM_001363668.2:c.905del | NP_001350597.1:p.Gly302GlufsTer4 |