Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729838_2729839delinsAG , CM000671.2:g.2729838_2729839delinsAG | GRCh38 |
| NC_000009.11:g.2729838_2729839delinsAG , CM000671.1:g.2729838_2729839delinsAG | GRCh37 |
| NC_000009.10:g.2719838_2719839delinsAG | NCBI36 |
| NG_012181.1:g.17313_17314delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.*111_*112delinsAG (KCNV2) MANE Select | ENSP00000371514.3:n.*111_*112delinsAG | |
| ENST00000382082.3:c.*111_*112delinsAG (KCNV2) | ENSP00000371514.3:n.*111_*112delinsAG | |
| ENST00000490444.2:c.277-9307_277-9306delinsCT (PUM3) | ENSP00000474467.1:n.277-9307_277-9306delinsCT | |
| NM_133497.3:c.*111_*112delinsAG (KCNV2) | NP_598004.1:n.*111_*112delinsAG | |
| NM_133497.4:c.*111_*112delinsAG (KCNV2) MANE Select | NP_598004.1:n.*111_*112delinsAG |