Linked Data
dbSNP Id:
rs1286038391
gnomAD v3:
11-69818795-TGCG-T
gnomAD v4:
11-69818795-TGCG-T
MyVariant Identifiers:
chr11:g.69818796_69818798del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69818799_69818801del , CM000673.2:g.69818799_69818801del | GRCh38 |
| NC_000011.9:g.69633567_69633569del , CM000673.1:g.69633567_69633569del | GRCh37 |
| NC_000011.8:g.69342504_69342506del | NCBI36 |
| NG_009016.1:g.5627_5629del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334134.4:c.136_138del MANE Select | ENSP00000334122.2:p.Arg46del | |
| ENST00000334134.2:c.136_138del | ENSP00000334122.2:p.Arg46del | |
| NM_005247.2:c.136_138del | NP_005238.1:p.Arg46del | |
| NM_005247.3:c.136_138del | NP_005238.1:p.Arg46del | |
| NM_005247.4:c.136_138del MANE Select | NP_005238.1:p.Arg46del |