Linked Data
ClinVar Variation Id:
38928
ClinVar RCV Id:
RCV000032179
dbSNP Id:
rs199422320
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240590del , CM000676.2:g.24240590del | GRCh38 |
| NC_000014.8:g.24709796del , CM000676.1:g.24709796del | GRCh37 |
| NC_000014.7:g.23779636del | NCBI36 |
| NG_016650.1:g.7087del | |
| NG_054634.1:g.13174del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557915.2:n.1195del | ||
| ENST00000557921.3:c.784del | ENSP00000453157.3:p.Gln262ArgfsTer19 | |
| ENST00000699682.1:n.1282del | ||
| ENST00000699683.1:n.1332del | ||
| ENST00000699684.1:c.*485del | ENSP00000514523.1:n.*485del | |
| ENST00000699685.1:n.1096del | ||
| ENST00000699686.1:c.685del | ENSP00000514524.1:p.Gln229ArgfsTer19 | |
| ENST00000699687.1:c.787del | ENSP00000514525.1:p.Gln263ArgfsTer19 | |
| ENST00000699688.1:n.1092del | ||
| ENST00000699689.1:n.1448del | ||
| ENST00000699690.1:n.1645del | ||
| ENST00000699691.1:n.1789del | ||
| ENST00000699693.1:n.1309del | ||
| ENST00000699694.1:n.1551del | ||
| ENST00000699695.1:c.*264del | ENSP00000514526.1:n.*264del | |
| ENST00000699696.1:n.1195del | ||
| ENST00000699697.1:c.892del | ENSP00000514527.1:p.Gln298ArgfsTer19 | |
| ENST00000699698.1:n.813del | ||
| ENST00000699699.1:n.1216del | ||
| ENST00000699700.1:n.1339del | ||
| ENST00000699701.1:c.*272del | ENSP00000514528.1:n.*272del | |
| ENST00000267415.12:c.892del MANE Select | ENSP00000267415.7:p.Gln298ArgfsTer19 | |
| ENST00000557921.2:c.784del | ENSP00000453157.2:p.Gln262ArgfsTer19 | |
| ENST00000646753.1:c.787del | ENSP00000494065.1:p.Gln263ArgfsTer19 | |
| ENST00000267415.11:c.892del | ENSP00000267415.7:p.Gln298ArgfsTer19 | |
| ENST00000399423.8:c.892del | ENSP00000382350.4:p.Gln298ArgfsTer19 | |
| ENST00000557915.1:n.11del | ||
| ENST00000558566.1:c.*264del | ENSP00000453025.1:n.*264del | |
| ENST00000559019.1:c.*264del | ENSP00000453675.1:n.*264del | |
| ENST00000559549.1:n.618del | ||
| ENST00000559969.5:c.757+91del | ||
| ENST00000626689.2:c.*264del | ENSP00000486681.1:n.*264del | |
| NM_001099274.1:c.892del | NP_001092744.1:p.Gln298ArgfsTer19 | |
| NM_012461.2:c.892del | NP_036593.2:p.Gln298ArgfsTer19 | |
| XM_005267528.2:c.892del | XP_005267585.1:p.Gln298ArgfsTer19 | |
| XM_005267529.2:c.787del | XP_005267586.1:p.Gln263ArgfsTer19 | |
| NM_001099274.2:c.892del | NP_001092744.1:p.Gln298ArgfsTer19 | |
| NM_001363668.1:c.787del | NP_001350597.1:p.Gln263ArgfsTer19 | |
| NM_012461.3:c.892del | NP_036593.2:p.Gln298ArgfsTer19 | |
| XM_011536642.2:c.*272del | XP_011534944.1:n.*272del | |
| XM_017021216.2:c.250del | XP_016876705.1:p.Gln84ArgfsTer19 | |
| XM_017021217.1:c.250del | XP_016876706.1:p.Gln84ArgfsTer19 | |
| NM_001099274.3:c.892del MANE Select | NP_001092744.1:p.Gln298ArgfsTer19 | |
| NM_001363668.2:c.787del | NP_001350597.1:p.Gln263ArgfsTer19 |