Canonical Allele Identifier: CA2764875405
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211363_186211364del , CM000666.2:g.186211363_186211364del GRCh38
NC_000004.11:g.187132517_187132518del , CM000666.1:g.187132517_187132518del GRCh37
NC_000004.10:g.187369511_187369512del NCBI36
NG_007965.1:g.24844_24845del
NG_012095.2:g.7385_7386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*722_*723del (CYP4V2) MANE Select ENSP00000368079.4:n.*722_*723del
ENST00000502665.1:n.1535_1536del (CYP4V2)
ENST00000507209.5:n.6998_6999del (CYP4V2)
ENST00000511608.5:c.201+2091_201+2092del (KLKB1)
NM_207352.3:c.*722_*723del (CYP4V2) NP_997235.3:n.*722_*723del
XM_005262935.2:c.*722_*723del (CYP4V2) XP_005262992.1:n.*722_*723del
XM_006714184.2:c.*722_*723del (CYP4V2) XP_006714247.1:n.*722_*723del
XM_011531931.1:c.-3346_-3345del (KLKB1) XP_011530233.1:n.-3346_-3345del
XM_011531932.1:c.-3596_-3595del (KLKB1) XP_011530234.1:n.-3596_-3595del
XM_011531933.1:c.-3410_-3409del (KLKB1) XP_011530235.1:n.-3410_-3409del
XM_005262935.4:c.*722_*723del (CYP4V2) XP_005262992.1:n.*722_*723del
XM_017008037.1:c.*722_*723del (CYP4V2) XP_016863526.1:n.*722_*723del
NM_207352.4:c.*722_*723del (CYP4V2) MANE Select NP_997235.3:n.*722_*723del