Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271056_31271101del , CM000668.2:g.31271056_31271101del | GRCh38 |
| NC_000006.11:g.31238833_31238878del , CM000668.1:g.31238833_31238878del | GRCh37 |
| NC_000006.10:g.31346812_31346857del | NCBI36 |
| NG_029422.2:g.6033_6078del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.593_619+19del | ||
| ENST00000376228.9:c.593_619+19del | ||
| ENST00000376237.8:c.*180_*206+19del | ||
| ENST00000383329.7:c.593_619+19del | ||
| ENST00000415537.1:c.591_617+19del | ||
| ENST00000487245.5:n.952_978+19del | ||
| ENST00000495835.1:n.782_808+19del | ||
| NM_002117.5:c.593_619+19del | ||
| NM_002117.6:c.593_619+19del |