Linked Data
gnomAD v4:
9-133255635-C-CGGCAGCCCTCCCAGAGCCCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255643_133255663dup , CM000671.2:g.133255643_133255663dup | GRCh38 |
| NC_000009.11:g.136131030_136131050dup , CM000671.1:g.136131030_136131050dup | GRCh37 |
| NC_000009.10:g.135120851_135120871dup | NCBI36 |
| NG_006669.1:g.22012_22032dup | |
| NG_006669.2:g.24560_24580dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1104_1124dup | ||
| ENST00000647353.1:n.54-4504_54-4484dup | ||
| ENST00000679909.1:c.28+19506_28+19526dup | ENSP00000506089.1:n.28+19506_28+19526dup | |
| ENST00000453660.3:n.1086_1106dup | ||
| ENST00000538324.2:c.1068_1088dup | ENSP00000483018.1:p.Pro363_Ala364insGlyAlaLeuGlyGlyLeuPro | |
| ENST00000611156.4:c.*10_*30dup | ENSP00000483265.1:n.*10_*30dup | |
| NM_020469.2:c.*10_*30dup | NP_065202.2:n.*10_*30dup | |
| NM_020469.3:c.*10_*30dup | NP_065202.2:n.*10_*30dup |