Canonical Allele Identifier: CA2764868940
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209407_186209408insA , CM000666.2:g.186209407_186209408insA GRCh38
NC_000004.11:g.187130561_187130562insA , CM000666.1:g.187130561_187130562insA GRCh37
NC_000004.10:g.187367555_187367556insA NCBI36
NG_007965.1:g.22888_22889insA
NG_012095.2:g.5429_5430insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1405+135_1405+136insA (CYP4V2) MANE Select ENSP00000368079.4:n.1405+135_1405+136insA
ENST00000378802.4:c.1405+135_1405+136insA (CYP4V2) ENSP00000368079.4:n.1405+135_1405+136insA
ENST00000502665.1:n.640+135_640+136insA (CYP4V2)
ENST00000507209.5:n.6103+135_6103+136insA (CYP4V2)
ENST00000511608.5:c.201+135_201+136insA (KLKB1)
ENST00000513354.5:n.495+135_495+136insA (CYP4V2)
NM_207352.3:c.1405+135_1405+136insA (CYP4V2) NP_997235.3:n.1405+135_1405+136insA
XM_005262935.2:c.1402+135_1402+136insA (CYP4V2) XP_005262992.1:n.1402+135_1402+136insA
XM_006714184.2:c.1009+135_1009+136insA (CYP4V2) XP_006714247.1:n.1009+135_1009+136insA
XM_005262935.4:c.1402+135_1402+136insA (CYP4V2) XP_005262992.1:n.1402+135_1402+136insA
XM_017008037.1:c.1009+135_1009+136insA (CYP4V2) XP_016863526.1:n.1009+135_1009+136insA
NM_207352.4:c.1405+135_1405+136insA (CYP4V2) MANE Select NP_997235.3:n.1405+135_1405+136insA