ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869243_240869255del , CM000664.2:g.240869243_240869255del | GRCh38 |
| NC_000002.11:g.241808660_241808672del , CM000664.1:g.241808660_241808672del | GRCh37 |
| NC_000002.10:g.241457333_241457345del | NCBI36 |
| NG_008005.1:g.5499_5511del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.239_251del MANE Select | ENSP00000302620.3:p.Gly80ValfsTer? | |
| ENST00000307503.3:c.239_251del | ENSP00000302620.3:p.Gly80ValfsTer? | |
| ENST00000472436.1:n.259_271del | ||
| NM_000030.2:c.239_251del | NP_000021.1:p.Gly80ValfsTer? | |
| XR_924060.1:n.405+981_405+993del | ||
| NM_000030.3:c.239_251del MANE Select | NP_000021.1:p.Gly80ValfsTer? |