Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873205_240873221del , CM000664.2:g.240873205_240873221del | GRCh38 |
| NC_000002.11:g.241812622_241812638del , CM000664.1:g.241812622_241812638del | GRCh37 |
| NC_000002.10:g.241461295_241461311del | NCBI36 |
| NG_008005.1:g.9461_9477del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.595+156_595+172del MANE Select | ENSP00000302620.3:n.595+156_595+172del | |
| ENST00000307503.3:c.595+156_595+172del | ENSP00000302620.3:n.595+156_595+172del | |
| ENST00000472436.1:n.771_787del | ||
| ENST00000476698.1:n.332+156_332+172del | ||
| NM_000030.2:c.595+156_595+172del | NP_000021.1:n.595+156_595+172del | |
| NM_000030.3:c.595+156_595+172del MANE Select | NP_000021.1:n.595+156_595+172del |