Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868884_240868885del , CM000664.2:g.240868884_240868885del | GRCh38 |
| NC_000002.11:g.241808301_241808302del , CM000664.1:g.241808301_241808302del | GRCh37 |
| NC_000002.10:g.241456974_241456975del | NCBI36 |
| NG_008005.1:g.5140_5141del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.19_20del MANE Select | ENSP00000302620.3:p.Leu7GlyfsTer? | |
| ENST00000307503.3:c.19_20del | ENSP00000302620.3:p.Leu7GlyfsTer? | |
| ENST00000472436.1:n.39_40del | ||
| NM_000030.2:c.19_20del | NP_000021.1:p.Leu7GlyfsTer? | |
| XR_924060.1:n.405+1348_405+1349del | ||
| NM_000030.3:c.19_20del MANE Select | NP_000021.1:p.Leu7GlyfsTer? |