Canonical Allele Identifier: CA1519892865
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211697_186211698delinsAT , CM000666.2:g.186211697_186211698delinsAT GRCh38
NC_000004.11:g.187132851_187132852delinsAT , CM000666.1:g.187132851_187132852delinsAT GRCh37
NC_000004.10:g.187369845_187369846delinsAT NCBI36
NG_007965.1:g.25178_25179delinsAT
NG_012095.2:g.7719_7720delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*1056_*1057delinsAT (CYP4V2) MANE Select ENSP00000368079.4:n.*1056_*1057delinsAT
ENST00000502665.1:n.1869_1870delinsAT (CYP4V2)
ENST00000507209.5:n.7332_7333delinsAT (CYP4V2)
ENST00000511608.5:c.201+2425_201+2426delinsAT (KLKB1)
NM_207352.3:c.*1056_*1057delinsAT (CYP4V2) NP_997235.3:n.*1056_*1057delinsAT
XM_005262935.2:c.*1056_*1057delinsAT (CYP4V2) XP_005262992.1:n.*1056_*1057delinsAT
XM_006714184.2:c.*1056_*1057delinsAT (CYP4V2) XP_006714247.1:n.*1056_*1057delinsAT
XM_011531931.1:c.-3012_-3011delinsAT (KLKB1) XP_011530233.1:n.-3012_-3011delinsAT
XM_011531932.1:c.-3262_-3261delinsAT (KLKB1) XP_011530234.1:n.-3262_-3261delinsAT
XM_011531933.1:c.-3076_-3075delinsAT (KLKB1) XP_011530235.1:n.-3076_-3075delinsAT
XM_005262935.4:c.*1056_*1057delinsAT (CYP4V2) XP_005262992.1:n.*1056_*1057delinsAT
XM_017008037.1:c.*1056_*1057delinsAT (CYP4V2) XP_016863526.1:n.*1056_*1057delinsAT
NM_207352.4:c.*1056_*1057delinsAT (CYP4V2) MANE Select NP_997235.3:n.*1056_*1057delinsAT