Canonical Allele Identifier: CA2764875669
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212872_186212873insA , CM000666.2:g.186212872_186212873insA GRCh38
NC_000004.11:g.187134026_187134027insA , CM000666.1:g.187134026_187134027insA GRCh37
NC_000004.10:g.187371020_187371021insA NCBI36
NG_007965.1:g.26353_26354insA
NG_012095.2:g.8894_8895insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*2231_*2232insA (CYP4V2) MANE Select ENSP00000368079.4:n.*2231_*2232insA
ENST00000502665.1:n.3044_3045insA (CYP4V2)
ENST00000507209.5:n.8507_8508insA (CYP4V2)
ENST00000511608.5:c.201+3600_201+3601insA (KLKB1)
NM_207352.3:c.*2231_*2232insA (CYP4V2) NP_997235.3:n.*2231_*2232insA
XM_005262935.2:c.*2231_*2232insA (CYP4V2) XP_005262992.1:n.*2231_*2232insA
XM_006714184.2:c.*2231_*2232insA (CYP4V2) XP_006714247.1:n.*2231_*2232insA
XM_011531931.1:c.-1837_-1836insA (KLKB1) XP_011530233.1:n.-1837_-1836insA
XM_011531932.1:c.-2087_-2086insA (KLKB1) XP_011530234.1:n.-2087_-2086insA
XM_011531933.1:c.-1901_-1900insA (KLKB1) XP_011530235.1:n.-1901_-1900insA
XM_005262935.4:c.*2231_*2232insA (CYP4V2) XP_005262992.1:n.*2231_*2232insA
XM_017008037.1:c.*2231_*2232insA (CYP4V2) XP_016863526.1:n.*2231_*2232insA
NM_207352.4:c.*2231_*2232insA (CYP4V2) MANE Select NP_997235.3:n.*2231_*2232insA