Canonical Allele Identifier: CA792330381
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs1343913822

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211696_186211705del , CM000666.2:g.186211696_186211705del GRCh38
NC_000004.11:g.187132850_187132859del , CM000666.1:g.187132850_187132859del GRCh37
NC_000004.10:g.187369844_187369853del NCBI36
NG_007965.1:g.25177_25186del
NG_012095.2:g.7718_7727del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*1055_*1064del (CYP4V2) MANE Select ENSP00000368079.4:n.*1055_*1064del
ENST00000502665.1:n.1868_1877del (CYP4V2)
ENST00000507209.5:n.7331_7340del (CYP4V2)
ENST00000511608.5:c.201+2424_201+2433del (KLKB1)
NM_207352.3:c.*1055_*1064del (CYP4V2) NP_997235.3:n.*1055_*1064del
XM_005262935.2:c.*1055_*1064del (CYP4V2) XP_005262992.1:n.*1055_*1064del
XM_006714184.2:c.*1055_*1064del (CYP4V2) XP_006714247.1:n.*1055_*1064del
XM_011531931.1:c.-3013_-3004del (KLKB1) XP_011530233.1:n.-3013_-3004del
XM_011531932.1:c.-3263_-3254del (KLKB1) XP_011530234.1:n.-3263_-3254del
XM_011531933.1:c.-3077_-3068del (KLKB1) XP_011530235.1:n.-3077_-3068del
XM_005262935.4:c.*1055_*1064del (CYP4V2) XP_005262992.1:n.*1055_*1064del
XM_017008037.1:c.*1055_*1064del (CYP4V2) XP_016863526.1:n.*1055_*1064del
NM_207352.4:c.*1055_*1064del (CYP4V2) MANE Select NP_997235.3:n.*1055_*1064del