Canonical Allele Identifier: CA2764868807
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209061_186209062insAGTA , CM000666.2:g.186209061_186209062insAGTA GRCh38
NC_000004.11:g.187130215_187130216insAGTA , CM000666.1:g.187130215_187130216insAGTA GRCh37
NC_000004.10:g.187367209_187367210insAGTA NCBI36
NG_007965.1:g.22542_22543insAGTA
NG_012095.2:g.5083_5084insAGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1226-32_1226-31insAGTA (CYP4V2) MANE Select ENSP00000368079.4:n.1226-32_1226-31insAGTA
ENST00000378802.4:c.1226-32_1226-31insAGTA (CYP4V2) ENSP00000368079.4:n.1226-32_1226-31insAGTA
ENST00000502665.1:n.461-32_461-31insAGTA (CYP4V2)
ENST00000507209.5:n.5924-32_5924-31insAGTA (CYP4V2)
ENST00000511608.5:c.22-32_22-31insAGTA (KLKB1)
ENST00000513354.5:n.316-32_316-31insAGTA (CYP4V2)
NM_207352.3:c.1226-32_1226-31insAGTA (CYP4V2) NP_997235.3:n.1226-32_1226-31insAGTA
XM_005262935.2:c.1226-35_1226-34insAGTA (CYP4V2) XP_005262992.1:n.1226-35_1226-34insAGTA
XM_006714184.2:c.830-32_830-31insAGTA (CYP4V2) XP_006714247.1:n.830-32_830-31insAGTA
XM_005262935.4:c.1226-35_1226-34insAGTA (CYP4V2) XP_005262992.1:n.1226-35_1226-34insAGTA
XM_017008037.1:c.830-32_830-31insAGTA (CYP4V2) XP_016863526.1:n.830-32_830-31insAGTA
NM_207352.4:c.1226-32_1226-31insAGTA (CYP4V2) MANE Select NP_997235.3:n.1226-32_1226-31insAGTA