Linked Data
ClinVar Variation Id:
2133546
ClinVar RCV Id:
RCV003040987
dbSNP Id:
rs1456167867
gnomAD v2:
X-47433732-AGGCG-A
gnomAD v4:
X-47574333-AGGCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574345_47574348del , CM000685.2:g.47574345_47574348del | GRCh38 |
| NC_000023.10:g.47433744_47433747del , CM000685.1:g.47433744_47433747del | GRCh37 |
| NC_000023.9:g.47318688_47318691del | NCBI36 |
| NG_008437.1:g.50521_50524del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1647_1650del MANE Select | ENSP00000295987.7:p.Ala550LeufsTer? | |
| ENST00000340666.5:c.1647_1650del | ENSP00000343206.4:p.Ala550LeufsTer? | |
| ENST00000640721.1:c.70+351_70+354del | ENSP00000492857.1:n.70+351_70+354del | |
| ENST00000295987.11:c.1647_1650del | ENSP00000295987.7:p.Ala550LeufsTer? | |
| ENST00000340666.4:c.1647_1650del | ENSP00000343206.4:p.Ala550LeufsTer? | |
| NM_006950.3:c.1647_1650del MANE Select | NP_008881.2:p.Ala550LeufsTer? | |
| NM_133499.2:c.1647_1650del | NP_598006.1:p.Ala550LeufsTer? |