Canonical Allele Identifier: CA2764875402
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211362_186211375del , CM000666.2:g.186211362_186211375del GRCh38
NC_000004.11:g.187132516_187132529del , CM000666.1:g.187132516_187132529del GRCh37
NC_000004.10:g.187369510_187369523del NCBI36
NG_007965.1:g.24843_24856del
NG_012095.2:g.7384_7397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*721_*734del (CYP4V2) MANE Select ENSP00000368079.4:n.*721_*734del
ENST00000502665.1:n.1534_1547del (CYP4V2)
ENST00000507209.5:n.6997_7010del (CYP4V2)
ENST00000511608.5:c.201+2090_201+2103del (KLKB1)
NM_207352.3:c.*721_*734del (CYP4V2) NP_997235.3:n.*721_*734del
XM_005262935.2:c.*721_*734del (CYP4V2) XP_005262992.1:n.*721_*734del
XM_006714184.2:c.*721_*734del (CYP4V2) XP_006714247.1:n.*721_*734del
XM_011531931.1:c.-3347_-3334del (KLKB1) XP_011530233.1:n.-3347_-3334del
XM_011531932.1:c.-3597_-3584del (KLKB1) XP_011530234.1:n.-3597_-3584del
XM_011531933.1:c.-3411_-3398del (KLKB1) XP_011530235.1:n.-3411_-3398del
XM_005262935.4:c.*721_*734del (CYP4V2) XP_005262992.1:n.*721_*734del
XM_017008037.1:c.*721_*734del (CYP4V2) XP_016863526.1:n.*721_*734del
NM_207352.4:c.*721_*734del (CYP4V2) MANE Select NP_997235.3:n.*721_*734del