Linked Data
ClinVar Variation Id:
370958
ClinVar RCV Id:
RCV001850952
dbSNP Id:
rs1057516896
gnomAD v4:
2-240874054-CAAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874055_240874058del , CM000664.2:g.240874055_240874058del | GRCh38 |
| NC_000002.11:g.241813472_241813475del , CM000664.1:g.241813472_241813475del | GRCh37 |
| NC_000002.10:g.241462145_241462148del | NCBI36 |
| NG_008005.1:g.10311_10314del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.673_676del MANE Select | ENSP00000302620.3:p.Lys225ProfsTer? | |
| ENST00000307503.3:c.673_676del | ENSP00000302620.3:p.Lys225ProfsTer? | |
| ENST00000476698.1:n.332+1006_332+1009del | ||
| NM_000030.2:c.673_676del | NP_000021.1:p.Lys225ProfsTer? | |
| NM_000030.3:c.673_676del MANE Select | NP_000021.1:p.Lys225ProfsTer? |