Linked Data
ClinVar Variation Id:
1261142
ClinVar RCV Id:
RCV001671543
dbSNP Id:
rs140094229
gnomAD v2:
5-1414513-TG-T
gnomAD v3:
5-1414398-TG-T
gnomAD v4:
5-1414398-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414405del , CM000667.2:g.1414405del | GRCh38 |
| NC_000005.9:g.1414520del , CM000667.1:g.1414520del | GRCh37 |
| NC_000005.8:g.1467520del | NCBI36 |
| NG_015885.1:g.36030del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+292del MANE Select | ENSP00000270349.9:n.1156+292del | |
| ENST00000270349.11:c.1156+292del | ENSP00000270349.9:n.1156+292del | |
| NM_001044.4:c.1156+292del | NP_001035.1:n.1156+292del | |
| NM_001044.5:c.1156+292del MANE Select | NP_001035.1:n.1156+292del |