Linked Data
ClinVar Variation Id:
189567
ClinVar RCV Id:
RCV000170014
dbSNP Id:
rs786204975
PubMed:
PMID:22430159
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604778del , CM000685.2:g.18604778del | GRCh38 |
| NC_000023.10:g.18622898del , CM000685.1:g.18622898del | GRCh37 |
| NC_000023.9:g.18532819del | NCBI36 |
| NG_008475.1:g.184174del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.1854del MANE Select | ENSP00000485244.1:p.Asp618GlufsTer3 | |
| ENST00000635828.1:c.1854del | ENSP00000490170.1:p.Asp618GlufsTer3 | |
| ENST00000674046.1:c.1854del | ENSP00000501174.1:p.Asp618GlufsTer3 | |
| ENST00000379989.6:c.1854del | ENSP00000369325.3:p.Asp618GlufsTer3 | |
| ENST00000379996.7:c.1854del | ENSP00000369332.3:p.Asp618GlufsTer3 | |
| ENST00000463994.4:c.1854del | ENSP00000485184.1:p.Asp618GlufsTer3 | |
| ENST00000623535.1:c.1854del | ENSP00000485244.1:p.Asp618GlufsTer3 | |
| NM_001037343.1:c.1854del | NP_001032420.1:p.Asp618GlufsTer3 | |
| NM_003159.2:c.1854del | NP_003150.1:p.Asp618GlufsTer3 | |
| XM_011545569.1:c.1803del | XP_011543871.1:p.Asp601GlufsTer3 | |
| XM_011545570.1:c.1722del | XP_011543872.1:p.Asp574GlufsTer3 | |
| XR_950484.1:n.2106del | ||
| NM_001323289.1:c.1854del | NP_001310218.1:p.Asp618GlufsTer3 | |
| NM_001323289.2:c.1854del MANE Select | NP_001310218.1:p.Asp618GlufsTer3 | |
| NM_001037343.2:c.1854del | NP_001032420.1:p.Asp618GlufsTer3 | |
| NM_003159.3:c.1854del | NP_003150.1:p.Asp618GlufsTer3 |