Canonical Allele Identifier: CA1519893652
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212594_186212596delinsATC , CM000666.2:g.186212594_186212596delinsATC GRCh38
NC_000004.11:g.187133748_187133750delinsATC , CM000666.1:g.187133748_187133750delinsATC GRCh37
NC_000004.10:g.187370742_187370744delinsATC NCBI36
NG_007965.1:g.26075_26077delinsATC
NG_012095.2:g.8616_8618delinsATC

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*1953_*1955delinsATC (CYP4V2) MANE Select ENSP00000368079.4:n.*1953_*1955delinsATC
ENST00000502665.1:n.2766_2768delinsATC (CYP4V2)
ENST00000507209.5:n.8229_8231delinsATC (CYP4V2)
ENST00000511608.5:c.201+3322_201+3324delinsATC (KLKB1)
NM_207352.3:c.*1953_*1955delinsATC (CYP4V2) NP_997235.3:n.*1953_*1955delinsATC
XM_005262935.2:c.*1953_*1955delinsATC (CYP4V2) XP_005262992.1:n.*1953_*1955delinsATC
XM_006714184.2:c.*1953_*1955delinsATC (CYP4V2) XP_006714247.1:n.*1953_*1955delinsATC
XM_011531931.1:c.-2115_-2113delinsATC (KLKB1) XP_011530233.1:n.-2115_-2113delinsATC
XM_011531932.1:c.-2365_-2363delinsATC (KLKB1) XP_011530234.1:n.-2365_-2363delinsATC
XM_011531933.1:c.-2179_-2177delinsATC (KLKB1) XP_011530235.1:n.-2179_-2177delinsATC
XM_005262935.4:c.*1953_*1955delinsATC (CYP4V2) XP_005262992.1:n.*1953_*1955delinsATC
XM_017008037.1:c.*1953_*1955delinsATC (CYP4V2) XP_016863526.1:n.*1953_*1955delinsATC
NM_207352.4:c.*1953_*1955delinsATC (CYP4V2) MANE Select NP_997235.3:n.*1953_*1955delinsATC