Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875890_240875891delinsCA , CM000664.2:g.240875890_240875891delinsCA | GRCh38 |
| NC_000002.11:g.241815307_241815308delinsCA , CM000664.1:g.241815307_241815308delinsCA | GRCh37 |
| NC_000002.10:g.241463980_241463981delinsCA | NCBI36 |
| NG_008005.1:g.12146_12147delinsCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.777-45_777-44delinsCA MANE Select | ENSP00000302620.3:n.777-45_777-44delinsCA... | |
| ENST00000307503.3:c.777-45_777-44delinsCA | ENSP00000302620.3:n.777-45_777-44delinsCA... | |
| ENST00000476698.1:n.429-45_429-44delinsCA | ||
| NM_000030.2:c.777-45_777-44delinsCA | NP_000021.1:n.777-45_777-44delinsCA | |
| NM_000030.3:c.777-45_777-44delinsCA MANE Select | NP_000021.1:n.777-45_777-44delinsCA |