Canonical Allele Identifier: CA2764875410
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211374_186211375del , CM000666.2:g.186211374_186211375del GRCh38
NC_000004.11:g.187132528_187132529del , CM000666.1:g.187132528_187132529del GRCh37
NC_000004.10:g.187369522_187369523del NCBI36
NG_007965.1:g.24855_24856del
NG_012095.2:g.7396_7397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*733_*734del (CYP4V2) MANE Select ENSP00000368079.4:n.*733_*734del
ENST00000502665.1:n.1546_1547del (CYP4V2)
ENST00000507209.5:n.7009_7010del (CYP4V2)
ENST00000511608.5:c.201+2102_201+2103del (KLKB1)
NM_207352.3:c.*733_*734del (CYP4V2) NP_997235.3:n.*733_*734del
XM_005262935.2:c.*733_*734del (CYP4V2) XP_005262992.1:n.*733_*734del
XM_006714184.2:c.*733_*734del (CYP4V2) XP_006714247.1:n.*733_*734del
XM_011531931.1:c.-3335_-3334del (KLKB1) XP_011530233.1:n.-3335_-3334del
XM_011531932.1:c.-3585_-3584del (KLKB1) XP_011530234.1:n.-3585_-3584del
XM_011531933.1:c.-3399_-3398del (KLKB1) XP_011530235.1:n.-3399_-3398del
XM_005262935.4:c.*733_*734del (CYP4V2) XP_005262992.1:n.*733_*734del
XM_017008037.1:c.*733_*734del (CYP4V2) XP_016863526.1:n.*733_*734del
NM_207352.4:c.*733_*734del (CYP4V2) MANE Select NP_997235.3:n.*733_*734del