gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209087_186209102del , CM000666.2:g.186209087_186209102del | GRCh38 |
| NC_000004.11:g.187130241_187130256del , CM000666.1:g.187130241_187130256del | GRCh37 |
| NC_000004.10:g.187367235_187367250del | NCBI36 |
| NG_007965.1:g.22568_22583del | |
| NG_012095.2:g.5109_5124del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1226-6_1235del (CYP4V2) | ||
| ENST00000378802.4:c.1226-6_1235del (CYP4V2) | ||
| ENST00000502665.1:n.461-6_470del (CYP4V2) | ||
| ENST00000507209.5:n.5924-6_5933del (CYP4V2) | ||
| ENST00000511608.5:c.22-6_31del (KLKB1) | ||
| ENST00000513354.5:n.316-6_325del (CYP4V2) | ||
| NM_207352.3:c.1226-6_1235del (CYP4V2) | ||
| XM_005262935.2:c.1226-9_1232del (CYP4V2) | ||
| XM_006714184.2:c.830-6_839del (CYP4V2) | ||
| XM_005262935.4:c.1226-9_1232del (CYP4V2) | ||
| XM_017008037.1:c.830-6_839del (CYP4V2) | ||
| NM_207352.4:c.1226-6_1235del (CYP4V2) |