Canonical Allele Identifier: CA2764875322
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211298_186211302del , CM000666.2:g.186211298_186211302del GRCh38
NC_000004.11:g.187132452_187132456del , CM000666.1:g.187132452_187132456del GRCh37
NC_000004.10:g.187369446_187369450del NCBI36
NG_007965.1:g.24779_24783del
NG_012095.2:g.7320_7324del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*657_*661del (CYP4V2) MANE Select ENSP00000368079.4:n.*657_*661del
ENST00000502665.1:n.1470_1474del (CYP4V2)
ENST00000507209.5:n.6933_6937del (CYP4V2)
ENST00000511608.5:c.201+2026_201+2030del (KLKB1)
NM_207352.3:c.*657_*661del (CYP4V2) NP_997235.3:n.*657_*661del
XM_005262935.2:c.*657_*661del (CYP4V2) XP_005262992.1:n.*657_*661del
XM_006714184.2:c.*657_*661del (CYP4V2) XP_006714247.1:n.*657_*661del
XM_011531931.1:c.-3411_-3407del (KLKB1) XP_011530233.1:n.-3411_-3407del
XM_011531932.1:c.-3661_-3657del (KLKB1) XP_011530234.1:n.-3661_-3657del
XM_011531933.1:c.-3475_-3471del (KLKB1) XP_011530235.1:n.-3475_-3471del
XM_005262935.4:c.*657_*661del (CYP4V2) XP_005262992.1:n.*657_*661del
XM_017008037.1:c.*657_*661del (CYP4V2) XP_016863526.1:n.*657_*661del
NM_207352.4:c.*657_*661del (CYP4V2) MANE Select NP_997235.3:n.*657_*661del