Linked Data
dbSNP Id:
rs368489835
gnomAD v2:
4-187132660-GT-G
gnomAD v3:
4-186211506-GT-G
gnomAD v4:
4-186211506-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186211509del , CM000666.2:g.186211509del | GRCh38 |
| NC_000004.11:g.187132663del , CM000666.1:g.187132663del | GRCh37 |
| NC_000004.10:g.187369657del | NCBI36 |
| NG_007965.1:g.24990del | |
| NG_012095.2:g.7531del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.*868del (CYP4V2) MANE Select | ENSP00000368079.4:n.*868del | |
| ENST00000502665.1:n.1681del (CYP4V2) | ||
| ENST00000507209.5:n.7144del (CYP4V2) | ||
| ENST00000511608.5:c.201+2237del (KLKB1) | ||
| NM_207352.3:c.*868del (CYP4V2) | NP_997235.3:n.*868del | |
| XM_005262935.2:c.*868del (CYP4V2) | XP_005262992.1:n.*868del | |
| XM_006714184.2:c.*868del (CYP4V2) | XP_006714247.1:n.*868del | |
| XM_011531931.1:c.-3200del (KLKB1) | XP_011530233.1:n.-3200del | |
| XM_011531932.1:c.-3450del (KLKB1) | XP_011530234.1:n.-3450del | |
| XM_011531933.1:c.-3264del (KLKB1) | XP_011530235.1:n.-3264del | |
| XM_005262935.4:c.*868del (CYP4V2) | XP_005262992.1:n.*868del | |
| XM_017008037.1:c.*868del (CYP4V2) | XP_016863526.1:n.*868del | |
| NM_207352.4:c.*868del (CYP4V2) MANE Select | NP_997235.3:n.*868del |