Linked Data
gnomAD v4:
9-133256183-TCCTGCCAGCGCTTGTAGGCGCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256185_133256206del , CM000671.2:g.133256185_133256206del | GRCh38 |
| NC_000009.11:g.136131572_136131593del , CM000671.1:g.136131572_136131593del | GRCh37 |
| NC_000009.10:g.135121393_135121414del | NCBI36 |
| NG_006669.1:g.21463_21484del | |
| NG_006669.2:g.24011_24032del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.555_576del | ||
| ENST00000647353.1:n.54-5053_54-5032del | ||
| ENST00000651471.1:n.481_502del | ||
| ENST00000679909.1:c.28+18957_28+18978del | ENSP00000506089.1:n.28+18957_28+18978del | |
| ENST00000453660.3:n.537_558del | ||
| ENST00000538324.2:c.523_544del | ENSP00000483018.1:p.Arg175ThrfsTer9 | |
| ENST00000611156.4:c.523_544del | ENSP00000483265.1:p.Arg175ThrfsTer9 | |
| NM_020469.2:c.526_547del | NP_065202.2:p.Arg176ThrfsTer9 | |
| NM_020469.3:c.526_547del | NP_065202.2:p.Arg176ThrfsTer9 |