Canonical Allele Identifier: CA917387424
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs58524374

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211705_186211706insCACACACACACACA , CM000666.2:g.186211705_186211706insCACACACACACACA GRCh38
NC_000004.11:g.187132859_187132860insCACACACACACACA , CM000666.1:g.187132859_187132860insCACACACACACACA GRCh37
NC_000004.10:g.187369853_187369854insCACACACACACACA NCBI36
NG_007965.1:g.25186_25187insCACACACACACACA
NG_012095.2:g.7727_7728insCACACACACACACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*1064_*1065insCACACACACACACA (CYP4V2) MANE Select ENSP00000368079.4:n.*1064_*1065insCACACACACACACA
ENST00000502665.1:n.1877_1878insCACACACACACACA (CYP4V2)
ENST00000507209.5:n.7340_7341insCACACACACACACA (CYP4V2)
ENST00000511608.5:c.201+2433_201+2434insCACACACACACACA (KLKB1)
NM_207352.3:c.*1064_*1065insCACACACACACACA (CYP4V2) NP_997235.3:n.*1064_*1065insCACACACACACACA
XM_005262935.2:c.*1064_*1065insCACACACACACACA (CYP4V2) XP_005262992.1:n.*1064_*1065insCACACACACACACA
XM_006714184.2:c.*1064_*1065insCACACACACACACA (CYP4V2) XP_006714247.1:n.*1064_*1065insCACACACACACACA
XM_011531931.1:c.-3004_-3003insCACACACACACACA (KLKB1) XP_011530233.1:n.-3004_-3003insCACACACACACACA
XM_011531932.1:c.-3254_-3253insCACACACACACACA (KLKB1) XP_011530234.1:n.-3254_-3253insCACACACACACACA
XM_011531933.1:c.-3068_-3067insCACACACACACACA (KLKB1) XP_011530235.1:n.-3068_-3067insCACACACACACACA
XM_005262935.4:c.*1064_*1065insCACACACACACACA (CYP4V2) XP_005262992.1:n.*1064_*1065insCACACACACACACA
XM_017008037.1:c.*1064_*1065insCACACACACACACA (CYP4V2) XP_016863526.1:n.*1064_*1065insCACACACACACACA
NM_207352.4:c.*1064_*1065insCACACACACACACA (CYP4V2) MANE Select NP_997235.3:n.*1064_*1065insCACACACACACACA