Linked Data
ClinVar Variation Id:
2877670
ClinVar RCV Id:
RCV003640755
dbSNP Id:
rs531590761
gnomAD v2:
2-233388674-GA-G
gnomAD v3:
2-232523964-GA-G
gnomAD v4:
2-232523964-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523965del , CM000664.2:g.232523965del | GRCh38 |
| NC_000002.11:g.233388675del , CM000664.1:g.233388675del | GRCh37 |
| NC_000002.10:g.233096919del | NCBI36 |
| NG_008028.1:g.2754del | |
| NG_031969.1:g.8503del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1186+20del MANE Select | ENSP00000479745.1:n.1186+20del | |
| ENST00000449534.6:c.1189+20del | ENSP00000473410.1:n.1189+20del | |
| ENST00000617714.1:c.1186+20del | ENSP00000479745.1:n.1186+20del | |
| NM_001195129.1:c.1186+20del | NP_001182058.1:n.1186+20del | |
| NM_001195129.2:c.1186+20del MANE Select | NP_001182058.1:n.1186+20del | |
| NM_001369848.1:c.1189+20del | NP_001356777.1:n.1189+20del |