Canonical Allele Identifier: CA2764875380
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211351_186211368del , CM000666.2:g.186211351_186211368del GRCh38
NC_000004.11:g.187132505_187132522del , CM000666.1:g.187132505_187132522del GRCh37
NC_000004.10:g.187369499_187369516del NCBI36
NG_007965.1:g.24832_24849del
NG_012095.2:g.7373_7390del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*710_*727del (CYP4V2) MANE Select ENSP00000368079.4:n.*710_*727del
ENST00000502665.1:n.1523_1540del (CYP4V2)
ENST00000507209.5:n.6986_7003del (CYP4V2)
ENST00000511608.5:c.201+2079_201+2096del (KLKB1)
NM_207352.3:c.*710_*727del (CYP4V2) NP_997235.3:n.*710_*727del
XM_005262935.2:c.*710_*727del (CYP4V2) XP_005262992.1:n.*710_*727del
XM_006714184.2:c.*710_*727del (CYP4V2) XP_006714247.1:n.*710_*727del
XM_011531931.1:c.-3358_-3341del (KLKB1) XP_011530233.1:n.-3358_-3341del
XM_011531932.1:c.-3608_-3591del (KLKB1) XP_011530234.1:n.-3608_-3591del
XM_011531933.1:c.-3422_-3405del (KLKB1) XP_011530235.1:n.-3422_-3405del
XM_005262935.4:c.*710_*727del (CYP4V2) XP_005262992.1:n.*710_*727del
XM_017008037.1:c.*710_*727del (CYP4V2) XP_016863526.1:n.*710_*727del
NM_207352.4:c.*710_*727del (CYP4V2) MANE Select NP_997235.3:n.*710_*727del