Linked Data
gnomAD v4:
9-133257524-C-CACGAGGACATCCTTCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257527_133257543dup , CM000671.2:g.133257527_133257543dup | GRCh38 |
| NC_000009.11:g.136132914_136132930dup , CM000671.1:g.136132914_136132930dup | GRCh37 |
| NC_000009.10:g.135122735_135122751dup | NCBI36 |
| NG_006669.1:g.20126_20142dup | |
| NG_006669.2:g.22674_22690dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.271_287dup | ||
| ENST00000647353.1:n.54-6389_54-6373dup | ||
| ENST00000651471.1:n.329+501_329+517dup | ||
| ENST00000679909.1:c.28+17621_28+17637dup | ENSP00000506089.1:n.28+17621_28+17637dup | |
| ENST00000453660.3:n.253_269dup | ||
| ENST00000538324.2:c.241_257dup | ||
| ENST00000611156.4:c.241_257dup | ||
| NM_020469.2:c.241_257dup | ||
| NM_020469.3:c.241_257dup |