Linked Data
ClinVar Variation Id:
553110
ClinVar RCV Id:
RCV000668491
dbSNP Id:
rs745574977
gnomAD v2:
1-209791815-GCCTGCAACCGGCGGGCACGCGCAATGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209618476_209618502del , CM000663.2:g.209618476_209618502del | GRCh38 |
| NC_000001.10:g.209791821_209791847del , CM000663.1:g.209791821_209791847del | GRCh37 |
| NC_000001.9:g.207858444_207858470del | NCBI36 |
| NG_007116.1:g.38979_39005del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.2864_2890del MANE Select | ENSP00000348384.3:p.Asp955_Gln963del | |
| ENST00000356082.8:c.2864_2890del | ENSP00000348384.3:p.Asp955_Gln963del | |
| ENST00000367030.7:c.2864_2890del | ENSP00000355997.3:p.Asp955_Gln963del | |
| ENST00000391911.5:c.2864_2890del | ENSP00000375778.1:p.Asp955_Gln963del | |
| ENST00000455193.1:c.71_97del | ENSP00000398683.1:p.Asp24_Gln32del | |
| NM_000228.2:c.2864_2890del | NP_000219.2:p.Asp955_Gln963del | |
| NM_001017402.1:c.2864_2890del | NP_001017402.1:p.Asp955_Gln963del | |
| NM_001127641.1:c.2864_2890del | NP_001121113.1:p.Asp955_Gln963del | |
| XM_005273124.3:c.2864_2890del | XP_005273181.1:p.Asp955_Gln963del | |
| XM_005273124.4:c.2864_2890del | XP_005273181.1:p.Asp955_Gln963del | |
| XM_017001272.2:c.2672_2698del | XP_016856761.1:p.Asp891_Gln899del | |
| NM_000228.3:c.2864_2890del MANE Select | NP_000219.2:p.Asp955_Gln963del | |
| NM_001017402.2:c.2864_2890del | NP_001017402.1:p.Asp955_Gln963del |