Linked Data
dbSNP Id:
rs1282528893
gnomAD v2:
4-187132810-T-TACACAC
gnomAD v3:
4-186211656-T-TACACAC
gnomAD v4:
4-186211656-T-TACACAC
MyVariant Identifiers:
chr4:g.187132810_187132811insACACAC (hg19)
chr4:g.186211656_186211657insACACAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186211658_186211663dup , CM000666.2:g.186211658_186211663dup | GRCh38 |
| NC_000004.11:g.187132812_187132817dup , CM000666.1:g.187132812_187132817dup | GRCh37 |
| NC_000004.10:g.187369806_187369811dup | NCBI36 |
| NG_007965.1:g.25139_25144dup | |
| NG_012095.2:g.7680_7685dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.*1017_*1022dup (CYP4V2) MANE Select | ENSP00000368079.4:n.*1017_*1022dup | |
| ENST00000502665.1:n.1830_1835dup (CYP4V2) | ||
| ENST00000507209.5:n.7293_7298dup (CYP4V2) | ||
| ENST00000511608.5:c.201+2386_201+2391dup (KLKB1) | ||
| NM_207352.3:c.*1017_*1022dup (CYP4V2) | NP_997235.3:n.*1017_*1022dup | |
| XM_005262935.2:c.*1017_*1022dup (CYP4V2) | XP_005262992.1:n.*1017_*1022dup | |
| XM_006714184.2:c.*1017_*1022dup (CYP4V2) | XP_006714247.1:n.*1017_*1022dup | |
| XM_011531931.1:c.-3051_-3046dup (KLKB1) | XP_011530233.1:n.-3051_-3046dup | |
| XM_011531932.1:c.-3301_-3296dup (KLKB1) | XP_011530234.1:n.-3301_-3296dup | |
| XM_011531933.1:c.-3115_-3110dup (KLKB1) | XP_011530235.1:n.-3115_-3110dup | |
| XM_005262935.4:c.*1017_*1022dup (CYP4V2) | XP_005262992.1:n.*1017_*1022dup | |
| XM_017008037.1:c.*1017_*1022dup (CYP4V2) | XP_016863526.1:n.*1017_*1022dup | |
| NM_207352.4:c.*1017_*1022dup (CYP4V2) MANE Select | NP_997235.3:n.*1017_*1022dup |