Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233221_55233222delinsGT , CM000667.2:g.55233221_55233222delinsGT | GRCh38 |
| NC_000005.9:g.54529049_54529050delinsGT , CM000667.1:g.54529049_54529050delinsGT | GRCh37 |
| NC_000005.8:g.54564806_54564807delinsGT | NCBI36 |
| NG_034201.1:g.5496_5497delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.302_303delinsAC MANE Select | ENSP00000282572.4:p.Tyr101= | |
| ENST00000282572.4:c.302_303delinsAC | ENSP00000282572.4:p.Tyr101= | |
| ENST00000501463.2:c.302_303delinsAC | ENSP00000422485.1:p.Tyr101= | |
| NM_021147.4:c.302_303delinsAC | NP_066970.3:p.Tyr101= | |
| NR_125346.1:n.496_497delinsAC | ||
| NR_125347.1:n.496_497delinsAC | ||
| NM_021147.5:c.302_303delinsAC MANE Select | NP_066970.3:p.Tyr101= | |
| NR_125346.2:n.387_388delinsAC | ||
| NR_125347.2:n.387_388delinsAC |