Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007793_88007794delinsGC , CM000666.2:g.88007793_88007794delinsGC | GRCh38 |
| NC_000004.11:g.88928945_88928946delinsGC , CM000666.1:g.88928945_88928946delinsGC | GRCh37 |
| NC_000004.10:g.89147969_89147970delinsGC | NCBI36 |
| NG_008604.1:g.5126_5127delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.60_61delinsGC MANE Select | ENSP00000237596.2:p.Ala20= | |
| ENST00000237596.6:c.60_61delinsGC | ENSP00000237596.2:p.Ala20= | |
| NM_000297.3:c.60_61delinsGC | NP_000288.1:p.Ala20= | |
| XM_011532028.1:c.60_61delinsGC | XP_011530330.1:p.Ala20= | |
| XR_244632.2:n.155_156delinsGC | ||
| NR_156488.1:n.147_148delinsGC | ||
| XM_011532028.2:c.60_61delinsGC | XP_011530330.1:p.Ala20= | |
| NM_000297.4:c.60_61delinsGC MANE Select | NP_000288.1:p.Ala20= | |
| NR_156488.2:n.159_160delinsGC |