Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287184_44287185delinsTC , CM000683.2:g.44287184_44287185delinsTC | GRCh38 |
| NC_000021.8:g.45707067_45707068delinsTC , CM000683.1:g.45707067_45707068delinsTC | GRCh37 |
| NC_000021.7:g.44531495_44531496delinsTC | NCBI36 |
| NG_009556.1:g.6305_6306delinsTC , LRG_18:g.6305_6306delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.463+51_463+52delinsTC MANE Select | ENSP00000291582.5:n.463+51_463+52delinsTC | |
| ENST00000291582.5:c.463+51_463+52delinsTC | ENSP00000291582.5:n.463+51_463+52delinsTC | |
| ENST00000527919.5:n.675_676delinsTC | ||
| ENST00000530812.5:n.683_684delinsTC | ||
| NM_000383.3:c.463+51_463+52delinsTC | NP_000374.1:n.463+51_463+52delinsTC | |
| XM_011529551.1:c.463+51_463+52delinsTC | XP_011527853.1:n.463+51_463+52delinsTC | |
| NM_000383.4:c.463+51_463+52delinsTC MANE Select | NP_000374.1:n.463+51_463+52delinsTC |