Linked Data
ClinVar Variation Id:
1948962
ClinVar RCV Id:
RCV002659243
dbSNP Id:
rs770450153
ExAC:
8:87588298 CTTTT / C
gnomAD v2:
8-87588298-CTTTT-C
gnomAD v4:
8-86576070-CTTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576072_86576075del , CM000670.2:g.86576072_86576075del | GRCh38 |
| NC_000008.10:g.87588300_87588303del , CM000670.1:g.87588300_87588303del | GRCh37 |
| NC_000008.9:g.87657416_87657419del | NCBI36 |
| NG_016980.1:g.172602_172605del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2160_2163del MANE Select | ENSP00000316605.5:p.Glu722MetfsTer? | |
| ENST00000681546.1:n.1980_1983del | ||
| ENST00000681746.1:c.*571_*574del | ENSP00000505959.1:n.*571_*574del | |
| ENST00000320005.5:c.2160_2163del | ENSP00000316605.5:p.Glu722MetfsTer? | |
| ENST00000517327.5:c.276+2615_276+2618del | ENSP00000428329.1:n.276+2615_276+2618del | |
| NM_019098.4:c.2160_2163del | NP_061971.3:p.Glu722MetfsTer? | |
| XM_011517138.1:c.1746_1749del | XP_011515440.1:p.Glu584MetfsTer? | |
| XM_011517138.2:c.1746_1749del | XP_011515440.1:p.Glu584MetfsTer? | |
| NM_019098.5:c.2160_2163del MANE Select | NP_061971.3:p.Glu722MetfsTer? |