Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527119_7527122del , CM000681.2:g.7527119_7527122del | GRCh38 |
| NC_000019.9:g.7592005_7592008del , CM000681.1:g.7592005_7592008del | GRCh37 |
| NC_000019.8:g.7498005_7498008del | NCBI36 |
| NG_015806.1:g.9510_9513del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.571+193_571+196del MANE Select | ENSP00000264079.5:n.571+193_571+196del | |
| ENST00000264079.10:c.571+193_571+196del | ENSP00000264079.5:n.571+193_571+196del | |
| ENST00000394321.9:n.651+193_651+196del | ||
| ENST00000596008.1:n.726_729del | ||
| ENST00000598406.1:n.392+193_392+196del | ||
| ENST00000601003.1:c.571+193_571+196del | ENSP00000469074.1:n.571+193_571+196del | |
| NM_020533.2:c.571+193_571+196del | NP_065394.1:n.571+193_571+196del | |
| NM_020533.3:c.571+193_571+196del MANE Select | NP_065394.1:n.571+193_571+196del |