Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233283_55233286delinsTACC , CM000667.2:g.55233283_55233286delinsTACC | GRCh38 |
| NC_000005.9:g.54529111_54529114delinsTACC , CM000667.1:g.54529111_54529114delinsTACC | GRCh37 |
| NC_000005.8:g.54564868_54564871delinsTACC | NCBI36 |
| NG_034201.1:g.5432_5435delinsGGTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.238_241delinsGGTA MANE Select | ENSP00000282572.4:p.Gly80= | |
| ENST00000282572.4:c.238_241delinsGGTA | ENSP00000282572.4:p.Gly80= | |
| ENST00000501463.2:c.238_241delinsGGTA | ENSP00000422485.1:p.Gly80= | |
| NM_021147.4:c.238_241delinsGGTA | NP_066970.3:p.Gly80= | |
| NR_125346.1:n.432_435delinsGGTA | ||
| NR_125347.1:n.432_435delinsGGTA | ||
| NM_021147.5:c.238_241delinsGGTA MANE Select | NP_066970.3:p.Gly80= | |
| NR_125346.2:n.323_326delinsGGTA | ||
| NR_125347.2:n.323_326delinsGGTA |