Canonical Allele Identifier: CA2764868797
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209038_186209039insACA , CM000666.2:g.186209038_186209039insACA GRCh38
NC_000004.11:g.187130192_187130193insACA , CM000666.1:g.187130192_187130193insACA GRCh37
NC_000004.10:g.187367186_187367187insACA NCBI36
NG_007965.1:g.22519_22520insACA
NG_012095.2:g.5060_5061insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1225+39_1225+40insACA (CYP4V2) MANE Select ENSP00000368079.4:n.1225+39_1225+40insACA
ENST00000378802.4:c.1225+39_1225+40insACA (CYP4V2) ENSP00000368079.4:n.1225+39_1225+40insACA
ENST00000502665.1:n.460+39_460+40insACA (CYP4V2)
ENST00000507209.5:n.5923+39_5923+40insACA (CYP4V2)
ENST00000511608.5:c.21+39_21+40insACA (KLKB1)
ENST00000513354.5:n.315+39_315+40insACA (CYP4V2)
NM_207352.3:c.1225+39_1225+40insACA (CYP4V2) NP_997235.3:n.1225+39_1225+40insACA
XM_005262935.2:c.1225+39_1225+40insACA (CYP4V2) XP_005262992.1:n.1225+39_1225+40insACA
XM_006714184.2:c.829+39_829+40insACA (CYP4V2) XP_006714247.1:n.829+39_829+40insACA
XM_005262935.4:c.1225+39_1225+40insACA (CYP4V2) XP_005262992.1:n.1225+39_1225+40insACA
XM_017008037.1:c.829+39_829+40insACA (CYP4V2) XP_016863526.1:n.829+39_829+40insACA
NM_207352.4:c.1225+39_1225+40insACA (CYP4V2) MANE Select NP_997235.3:n.1225+39_1225+40insACA