Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713646_6713647insTT , CM000681.2:g.6713646_6713647insTT | GRCh38 |
| NC_000019.9:g.6713657_6713658insTT , CM000681.1:g.6713657_6713658insTT | GRCh37 |
| NC_000019.8:g.6664657_6664658insTT | NCBI36 |
| NG_009557.1:g.12005_12006insAA , LRG_27:g.12005_12006insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-138_651-137insAA | ENSP00000512083.1:n.651-138_651-137insAA | |
| ENST00000245907.11:c.774-138_774-137insAA MANE Select | ENSP00000245907.4:n.774-138_774-137insAA | |
| ENST00000245907.10:c.774-138_774-137insAA | ENSP00000245907.4:n.774-138_774-137insAA | |
| ENST00000595577.1:n.278-138_278-137insAA | ||
| ENST00000597442.5:n.23+119_23+120insAA | ||
| NM_000064.3:c.774-138_774-137insAA | NP_000055.2:n.774-138_774-137insAA | |
| NM_000064.4:c.774-138_774-137insAA MANE Select | NP_000055.2:n.774-138_774-137insAA |