Linked Data
gnomAD v4:
9-2729681-GTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729682_2729684del , CM000671.2:g.2729682_2729684del | GRCh38 |
| NC_000009.11:g.2729682_2729684del , CM000671.1:g.2729682_2729684del | GRCh37 |
| NC_000009.10:g.2719682_2719684del | NCBI36 |
| NG_012181.1:g.17157_17159del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1593_1595del (KCNV2) MANE Select | ENSP00000371514.3:p.Cys531_Leu532delinsTrp | |
| ENST00000382082.3:c.1593_1595del (KCNV2) | ENSP00000371514.3:p.Cys531_Leu532delinsTrp | |
| ENST00000490444.2:c.277-9152_277-9150del (PUM3) | ENSP00000474467.1:n.277-9152_277-9150del | |
| NM_133497.3:c.1593_1595del (KCNV2) | NP_598004.1:p.Cys531_Leu532delinsTrp | |
| NM_133497.4:c.1593_1595del (KCNV2) MANE Select | NP_598004.1:p.Cys531_Leu532delinsTrp |