Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145213_38145214delinsGC , CM000670.2:g.38145213_38145214delinsGC | GRCh38 |
| NC_000008.10:g.38002731_38002732delinsGC , CM000670.1:g.38002731_38002732delinsGC | GRCh37 |
| NC_000008.9:g.38121888_38121889delinsGC | NCBI36 |
| NG_011827.1:g.10869_10870delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.744+8_744+9delinsGC MANE Select | ENSP00000276449.3:n.744+8_744+9delinsGC | |
| ENST00000276449.8:c.744+8_744+9delinsGC | ENSP00000276449.3:n.744+8_744+9delinsGC | |
| ENST00000520114.1:n.1886_1887delinsGC | ||
| ENST00000522050.1:c.586+749_586+750delinsGC | ||
| NM_000349.2:c.744+8_744+9delinsGC | NP_000340.2:n.744+8_744+9delinsGC | |
| XM_006716392.1:c.650+749_650+750delinsGC | XP_006716455.1:n.650+749_650+750delinsGC | |
| NM_000349.3:c.744+8_744+9delinsGC MANE Select | NP_000340.2:n.744+8_744+9delinsGC |