Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713841_6713842delinsTC , CM000681.2:g.6713841_6713842delinsTC | GRCh38 |
| NC_000019.9:g.6713852_6713853delinsTC , CM000681.1:g.6713852_6713853delinsTC | GRCh37 |
| NC_000019.8:g.6664852_6664853delinsTC | NCBI36 |
| NG_009557.1:g.11810_11811delinsGA , LRG_27:g.11810_11811delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.650+150_650+151delinsGA | ENSP00000512083.1:n.650+150_650+151delinsGA | |
| ENST00000245907.11:c.773+150_773+151delinsGA MANE Select | ENSP00000245907.4:n.773+150_773+151delinsGA | |
| ENST00000245907.10:c.773+150_773+151delinsGA | ENSP00000245907.4:n.773+150_773+151delinsGA | |
| ENST00000595577.1:n.277+150_277+151delinsGA | ||
| NM_000064.3:c.773+150_773+151delinsGA | NP_000055.2:n.773+150_773+151delinsGA | |
| NM_000064.4:c.773+150_773+151delinsGA MANE Select | NP_000055.2:n.773+150_773+151delinsGA |