Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713796_6713797insT , CM000681.2:g.6713796_6713797insT | GRCh38 |
| NC_000019.9:g.6713807_6713808insT , CM000681.1:g.6713807_6713808insT | GRCh37 |
| NC_000019.8:g.6664807_6664808insT | NCBI36 |
| NG_009557.1:g.11855_11856insA , LRG_27:g.11855_11856insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.650+195_650+196insA | ENSP00000512083.1:n.650+195_650+196insA | |
| ENST00000245907.11:c.773+195_773+196insA MANE Select | ENSP00000245907.4:n.773+195_773+196insA | |
| ENST00000245907.10:c.773+195_773+196insA | ENSP00000245907.4:n.773+195_773+196insA | |
| ENST00000595577.1:n.277+195_277+196insA | ||
| NM_000064.3:c.773+195_773+196insA | NP_000055.2:n.773+195_773+196insA | |
| NM_000064.4:c.773+195_773+196insA MANE Select | NP_000055.2:n.773+195_773+196insA |