Linked Data
ClinVar Variation Id:
2629060
ClinVar RCV Id:
RCV003420787
dbSNP Id:
rs1437995318
gnomAD v3:
9-136674735-CTGAAG-C
gnomAD v4:
9-136674735-CTGAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674741_136674745del , CM000671.2:g.136674741_136674745del | GRCh38 |
| NC_000009.11:g.139569193_139569197del , CM000671.1:g.139569193_139569197del | GRCh37 |
| NC_000009.10:g.138689014_138689018del | NCBI36 |
| NG_008090.1:g.17720_17724del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.656_660del MANE Select | ENSP00000360761.2:p.Thr219ArgfsTer? | |
| ENST00000371694.7:c.560_564del | ENSP00000360759.3:p.Thr187ArgfsTer? | |
| ENST00000371696.6:c.656_660del | ENSP00000360761.2:p.Thr219ArgfsTer? | |
| ENST00000472820.1:n.584_588del | ||
| ENST00000538402.1:c.656_660del | ENSP00000438919.1:p.Thr219ArgfsTer? | |
| NM_001012727.1:c.560_564del | NP_001012745.1:p.Thr187ArgfsTer? | |
| NM_006412.3:c.656_660del | NP_006403.2:p.Thr219ArgfsTer? | |
| NM_006412.4:c.656_660del MANE Select | NP_006403.2:p.Thr219ArgfsTer? | |
| NM_001012727.2:c.560_564del | NP_001012745.1:p.Thr187ArgfsTer? |