Linked Data
dbSNP Id:
rs1840631957
gnomAD v3:
10-30313937-AGAG-A
gnomAD v4:
10-30313937-AGAG-A
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313941_30313943del , CM000672.2:g.30313941_30313943del | GRCh38 |
| NC_000010.10:g.30602870_30602872del , CM000672.1:g.30602870_30602872del | GRCh37 |
| NC_000010.9:g.30642876_30642878del | NCBI36 |
| NG_028096.1:g.40399_40401del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263063.9:c.1418_1420del MANE Select | ENSP00000263063.3:p.Pro473del | |
| ENST00000263063.8:c.1418_1420del | ENSP00000263063.3:p.Pro473del | |
| ENST00000488290.5:n.3173_3175del | ||
| NM_018109.3:c.1418_1420del | NP_060579.3:p.Pro473del | |
| NM_018109.4:c.1418_1420del MANE Select | NP_060579.3:p.Pro473del |