Linked Data
gnomAD v4:
9-2729573-A-AGTTTTCTGATTACTACAGCAAGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729575_2729598dup , CM000671.2:g.2729575_2729598dup | GRCh38 |
| NC_000009.11:g.2729575_2729598dup , CM000671.1:g.2729575_2729598dup | GRCh37 |
| NC_000009.10:g.2719575_2719598dup | NCBI36 |
| NG_012181.1:g.17050_17073dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1486_1509dup (KCNV2) MANE Select | ENSP00000371514.3:p.Leu503_Lys504insPheSerAspTyrTyrSerLysLeu | |
| ENST00000382082.3:c.1486_1509dup (KCNV2) | ENSP00000371514.3:p.Leu503_Lys504insPheSerAspTyrTyrSerLysLeu | |
| ENST00000490444.2:c.277-9065_277-9042dup (PUM3) | ENSP00000474467.1:n.277-9065_277-9042dup | |
| NM_133497.3:c.1486_1509dup (KCNV2) | NP_598004.1:p.Leu503_Lys504insPheSerAspTyrTyrSerLysLeu | |
| NM_133497.4:c.1486_1509dup (KCNV2) MANE Select | NP_598004.1:p.Leu503_Lys504insPheSerAspTyrTyrSerLysLeu |