Linked Data
ClinVar Variation Id:
370959
ClinVar RCV Id:
RCV000412417
dbSNP Id:
rs1057516897
PubMed:
PMID:21505070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647234del , CM000681.2:g.12647234del | GRCh38 |
| NC_000019.9:g.12758048del , CM000681.1:g.12758048del | GRCh37 |
| NC_000019.8:g.12619048del | NCBI36 |
| NG_008318.1:g.24544del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.2922del MANE Select | ENSP00000395473.2:p.Gly975AlafsTer? | |
| ENST00000221363.8:c.2919del | ENSP00000221363.4:p.Gly974AlafsTer? | |
| ENST00000456935.6:c.2922del | ENSP00000395473.2:p.Gly975AlafsTer? | |
| ENST00000466794.5:n.3512del | ||
| ENST00000469423.1:n.351del | ||
| ENST00000493218.5:n.333del | ||
| ENST00000597692.1:c.481del | ||
| NM_000528.3:c.2922del | NP_000519.2:p.Gly975AlafsTer? | |
| NM_001173498.1:c.2919del | NP_001166969.1:p.Gly974AlafsTer? | |
| XM_005259913.1:c.2925del | XP_005259970.1:p.Gly976AlafsTer? | |
| XM_011528017.1:c.1821del | XP_011526319.1:p.Gly608AlafsTer? | |
| XM_005259913.2:c.2925del | XP_005259970.1:p.Gly976AlafsTer? | |
| XM_024451518.1:c.1821del | XP_024307286.1:p.Gly608AlafsTer? | |
| NM_000528.4:c.2922del MANE Select | NP_000519.2:p.Gly975AlafsTer? | |
| NM_001173498.2:c.2919del | NP_001166969.1:p.Gly974AlafsTer? |