Linked Data
ClinVar Variation Id:
1683262
ClinVar RCV Id:
RCV003235688
dbSNP Id:
rs2145220124
gnomAD v4:
19-12647268-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647269del , CM000681.2:g.12647269del | GRCh38 |
| NC_000019.9:g.12758083del , CM000681.1:g.12758083del | GRCh37 |
| NC_000019.8:g.12619083del | NCBI36 |
| NG_008318.1:g.24509del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2887del MANE Select | ENSP00000395473.2:p.Glu963ArgfsTer? | |
| ENST00000221363.8:c.2884del | ENSP00000221363.4:p.Glu962ArgfsTer? | |
| ENST00000456935.6:c.2887del | ENSP00000395473.2:p.Glu963ArgfsTer? | |
| ENST00000466794.5:n.3477del | ||
| ENST00000469423.1:n.316del | ||
| ENST00000493218.5:n.298del | ||
| ENST00000597692.1:c.446del | ||
| NM_000528.3:c.2887del | NP_000519.2:p.Glu963ArgfsTer? | |
| NM_001173498.1:c.2884del | NP_001166969.1:p.Glu962ArgfsTer? | |
| XM_005259913.1:c.2890del | XP_005259970.1:p.Glu964ArgfsTer? | |
| XM_011528017.1:c.1786del | XP_011526319.1:p.Glu596ArgfsTer? | |
| XM_005259913.2:c.2890del | XP_005259970.1:p.Glu964ArgfsTer? | |
| XM_024451518.1:c.1786del | XP_024307286.1:p.Glu596ArgfsTer? | |
| NM_000528.4:c.2887del MANE Select | NP_000519.2:p.Glu963ArgfsTer? | |
| NM_001173498.2:c.2884del | NP_001166969.1:p.Glu962ArgfsTer? |