Linked Data
dbSNP Id:
rs760912692
ExAC:
4:187131770 AGAG / A
gnomAD v2:
4-187131770-AGAG-A
gnomAD v3:
4-186210616-AGAG-A
gnomAD v4:
4-186210616-AGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186210620_186210622del , CM000666.2:g.186210620_186210622del | GRCh38 |
| NC_000004.11:g.187131774_187131776del , CM000666.1:g.187131774_187131776del | GRCh37 |
| NC_000004.10:g.187368768_187368770del | NCBI36 |
| NG_007965.1:g.24101_24103del | |
| NG_012095.2:g.6642_6644del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1557_1559del (CYP4V2) MANE Select | ENSP00000368079.4:p.Arg520del | |
| ENST00000378802.4:c.1557_1559del (CYP4V2) | ENSP00000368079.4:p.Arg520del | |
| ENST00000502665.1:n.792_794del (CYP4V2) | ||
| ENST00000507209.5:n.6255_6257del (CYP4V2) | ||
| ENST00000511608.5:c.201+1348_201+1350del (KLKB1) | ||
| ENST00000513354.5:n.647_649del (CYP4V2) | ||
| NM_207352.3:c.1557_1559del (CYP4V2) | NP_997235.3:p.Arg520del | |
| XM_005262935.2:c.1554_1556del (CYP4V2) | XP_005262992.1:p.Arg519del | |
| XM_006714184.2:c.1161_1163del (CYP4V2) | XP_006714247.1:p.Arg388del | |
| XM_005262935.4:c.1554_1556del (CYP4V2) | XP_005262992.1:p.Arg519del | |
| XM_017008037.1:c.1161_1163del (CYP4V2) | XP_016863526.1:p.Arg388del | |
| NM_207352.4:c.1557_1559del (CYP4V2) MANE Select | NP_997235.3:p.Arg520del |