Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713681_6713683del , CM000681.2:g.6713681_6713683del | GRCh38 |
| NC_000019.9:g.6713692_6713694del , CM000681.1:g.6713692_6713694del | GRCh37 |
| NC_000019.8:g.6664692_6664694del | NCBI36 |
| NG_009557.1:g.11969_11971del , LRG_27:g.11969_11971del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-174_651-172del | ENSP00000512083.1:n.651-174_651-172del | |
| ENST00000245907.11:c.774-174_774-172del MANE Select | ENSP00000245907.4:n.774-174_774-172del | |
| ENST00000245907.10:c.774-174_774-172del | ENSP00000245907.4:n.774-174_774-172del | |
| ENST00000595577.1:n.278-174_278-172del | ||
| ENST00000597442.5:n.23+83_23+85del | ||
| NM_000064.3:c.774-174_774-172del | NP_000055.2:n.774-174_774-172del | |
| NM_000064.4:c.774-174_774-172del MANE Select | NP_000055.2:n.774-174_774-172del |