Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273707_80273708delinsGC , CM000672.2:g.80273707_80273708delinsGC | GRCh38 |
| NC_000010.10:g.82033463_82033464delinsGC , CM000672.1:g.82033463_82033464delinsGC | GRCh37 |
| NC_000010.9:g.82023443_82023444delinsGC | NCBI36 |
| NG_008083.1:g.20971_20972delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.*73_*74delinsGC MANE Select | ENSP00000361287.3:n.*73_*74delinsGC | |
| ENST00000372213.7:c.*73_*74delinsGC | ENSP00000361287.3:n.*73_*74delinsGC | |
| ENST00000480845.1:n.493_494delinsGC | ||
| ENST00000485270.5:n.773_774delinsGC | ||
| NM_000429.2:c.*73_*74delinsGC | NP_000420.1:n.*73_*74delinsGC | |
| XM_005269842.3:c.*73_*74delinsGC | XP_005269899.1:n.*73_*74delinsGC | |
| XM_005269843.3:c.*73_*74delinsGC | XP_005269900.1:n.*73_*74delinsGC | |
| NM_000429.3:c.*73_*74delinsGC MANE Select | NP_000420.1:n.*73_*74delinsGC |