Canonical Allele Identifier: CA10617517
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 348332
ClinVar RCV Id: RCV000297708 RCV000354873
dbSNP Id: rs60425964
gnomAD v2: 4-187132818-T-TACACAC
gnomAD v3: 4-186211664-T-TACACAC
gnomAD v4: 4-186211664-T-TACACAC
MyVariant Identifiers: chr4:g.187132846_187132851dupCACACA (hg19) chr4:g.187132851_187132852insCACACA (hg19) chr4:g.187132818_187132819insACACAC (hg19) chr4:g.186211692_186211697dupCACACA (hg38) chr4:g.186211697_186211698insCACACA (hg38) chr4:g.186211664_186211665insACACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211692_186211697dup , CM000666.2:g.186211692_186211697dup GRCh38
NC_000004.11:g.187132846_187132851dup , CM000666.1:g.187132846_187132851dup GRCh37
NC_000004.10:g.187369840_187369845dup NCBI36
NG_007965.1:g.25173_25178dup
NG_012095.2:g.7714_7719dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*1051_*1056dup (CYP4V2) MANE Select ENSP00000368079.4:n.*1051_*1056dup
ENST00000502665.1:n.1864_1869dup (CYP4V2)
ENST00000507209.5:n.7327_7332dup (CYP4V2)
ENST00000511608.5:c.201+2420_201+2425dup (KLKB1)
NM_207352.3:c.*1051_*1056dup (CYP4V2) NP_997235.3:n.*1051_*1056dup
XM_005262935.2:c.*1051_*1056dup (CYP4V2) XP_005262992.1:n.*1051_*1056dup
XM_006714184.2:c.*1051_*1056dup (CYP4V2) XP_006714247.1:n.*1051_*1056dup
XM_011531931.1:c.-3017_-3012dup (KLKB1) XP_011530233.1:n.-3017_-3012dup
XM_011531932.1:c.-3267_-3262dup (KLKB1) XP_011530234.1:n.-3267_-3262dup
XM_011531933.1:c.-3081_-3076dup (KLKB1) XP_011530235.1:n.-3081_-3076dup
XM_005262935.4:c.*1051_*1056dup (CYP4V2) XP_005262992.1:n.*1051_*1056dup
XM_017008037.1:c.*1051_*1056dup (CYP4V2) XP_016863526.1:n.*1051_*1056dup
NM_207352.4:c.*1051_*1056dup (CYP4V2) MANE Select NP_997235.3:n.*1051_*1056dup
Search 100 bp 5'
Search 100 bp 3'