Linked Data
ClinVar Variation Id:
13674
dbSNP Id:
rs387906525
ExAC:
1:21904124 CT / C
gnomAD v2:
1-21904124-CT-C
gnomAD v3:
1-21577631-CT-C
gnomAD v4:
1-21577631-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21577632del , CM000663.2:g.21577632del | GRCh38 |
| NC_000001.10:g.21904125del , CM000663.1:g.21904125del | GRCh37 |
| NC_000001.9:g.21776712del | NCBI36 |
| NG_008940.1:g.73268del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374840.8:c.1559del MANE Select | ENSP00000363973.3:p.Leu520ArgfsTer? | |
| ENST00000374829.2:n.828del | ||
| ENST00000374830.2:c.634del | ||
| ENST00000374832.5:c.1559del | ENSP00000363965.1:p.Leu520ArgfsTer? | |
| ENST00000374840.7:c.1559del | ENSP00000363973.3:p.Leu520ArgfsTer? | |
| ENST00000539907.5:c.1328del | ENSP00000437674.1:p.Leu443ArgfsTer? | |
| ENST00000540617.5:c.1394del | ENSP00000442672.1:p.Leu465ArgfsTer? | |
| NM_000478.4:c.1559del | NP_000469.3:p.Leu520ArgfsTer? | |
| NM_001127501.2:c.1394del | NP_001120973.2:p.Leu465ArgfsTer? | |
| NM_001177520.1:c.1328del | NP_001170991.1:p.Leu443ArgfsTer? | |
| XM_005245818.1:c.1559del | XP_005245875.1:p.Leu520ArgfsTer? | |
| XM_006710546.1:c.1559del | XP_006710609.1:p.Leu520ArgfsTer? | |
| NM_000478.5:c.1559del | NP_000469.3:p.Leu520ArgfsTer? | |
| NM_001127501.3:c.1394del | NP_001120973.2:p.Leu465ArgfsTer? | |
| NM_001177520.2:c.1328del | NP_001170991.1:p.Leu443ArgfsTer? | |
| XM_006710546.3:c.1559del | XP_006710609.1:p.Leu520ArgfsTer? | |
| XM_017000903.1:c.1403del | XP_016856392.1:p.Leu468ArgfsTer? | |
| NM_000478.6:c.1559del MANE Select | NP_000469.3:p.Leu520ArgfsTer? | |
| NM_001127501.4:c.1394del | NP_001120973.2:p.Leu465ArgfsTer? | |
| NM_001177520.3:c.1328del | NP_001170991.1:p.Leu443ArgfsTer? | |
| NM_001369803.2:c.1559del | NP_001356732.1:p.Leu520ArgfsTer? | |
| NM_001369804.2:c.1559del | NP_001356733.1:p.Leu520ArgfsTer? | |
| NM_001369805.2:c.1559del | NP_001356734.1:p.Leu520ArgfsTer? |