Linked Data
ClinVar Variation Id:
372113
ClinVar RCV Id:
RCV000412504
dbSNP Id:
rs1057517656
gnomAD v4:
9-136673825-GTGGTCCTCA-G
PubMed:
PMID:20301391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673829_136673837del , CM000671.2:g.136673829_136673837del | GRCh38 |
| NC_000009.11:g.139568281_139568289del , CM000671.1:g.139568281_139568289del | GRCh37 |
| NC_000009.10:g.138688102_138688110del | NCBI36 |
| NG_008090.1:g.18626_18634del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371696.7:c.755_763del MANE Select | ENSP00000360761.2:p.Met252_Thr254del | |
| ENST00000371694.7:c.659_667del | ENSP00000360759.3:p.Met220_Thr222del | |
| ENST00000371696.6:c.755_763del | ENSP00000360761.2:p.Met252_Thr254del | |
| ENST00000472820.1:n.683_691del | ||
| ENST00000538402.1:c.755_763del | ENSP00000438919.1:p.Met252_Thr254del | |
| NM_001012727.1:c.659_667del | NP_001012745.1:p.Met220_Thr222del | |
| NM_006412.3:c.755_763del | NP_006403.2:p.Met252_Thr254del | |
| NM_006412.4:c.755_763del MANE Select | NP_006403.2:p.Met252_Thr254del | |
| NM_001012727.2:c.659_667del | NP_001012745.1:p.Met220_Thr222del |