Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046618_136046619delinsAC , CM000667.2:g.136046618_136046619delinsAC | GRCh38 |
| NC_000005.9:g.135382307_135382308delinsAC , CM000667.1:g.135382307_135382308delinsAC | GRCh37 |
| NC_000005.8:g.135410206_135410207delinsAC | NCBI36 |
| NG_012646.1:g.22724_22725delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.459+123_459+124delinsAC MANE Select | ENSP00000416330.2:n.459+123_459+124delinsAC | |
| ENST00000442011.6:c.459+123_459+124delinsAC | ENSP00000416330.2:n.459+123_459+124delinsAC | |
| ENST00000506699.5:n.647_648delinsAC | ||
| ENST00000507018.5:c.437+62_437+63delinsAC | ||
| ENST00000515433.1:n.874_875delinsAC | ||
| NM_000358.2:c.459+123_459+124delinsAC | NP_000349.1:n.459+123_459+124delinsAC | |
| NM_000358.3:c.459+123_459+124delinsAC MANE Select | NP_000349.1:n.459+123_459+124delinsAC |