Canonical Allele Identifier: CA2764868896
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209334_186209335insAGA , CM000666.2:g.186209334_186209335insAGA GRCh38
NC_000004.11:g.187130488_187130489insAGA , CM000666.1:g.187130488_187130489insAGA GRCh37
NC_000004.10:g.187367482_187367483insAGA NCBI36
NG_007965.1:g.22815_22816insAGA
NG_012095.2:g.5356_5357insAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1405+62_1405+63insAGA (CYP4V2) MANE Select ENSP00000368079.4:n.1405+62_1405+63insAGA...
ENST00000378802.4:c.1405+62_1405+63insAGA (CYP4V2) ENSP00000368079.4:n.1405+62_1405+63insAGA...
ENST00000502665.1:n.640+62_640+63insAGA (CYP4V2)
ENST00000507209.5:n.6103+62_6103+63insAGA (CYP4V2)
ENST00000511608.5:c.201+62_201+63insAGA (KLKB1)
ENST00000513354.5:n.495+62_495+63insAGA (CYP4V2)
NM_207352.3:c.1405+62_1405+63insAGA (CYP4V2) NP_997235.3:n.1405+62_1405+63insAGA
XM_005262935.2:c.1402+62_1402+63insAGA (CYP4V2) XP_005262992.1:n.1402+62_1402+63insAGA
XM_006714184.2:c.1009+62_1009+63insAGA (CYP4V2) XP_006714247.1:n.1009+62_1009+63insAGA
XM_005262935.4:c.1402+62_1402+63insAGA (CYP4V2) XP_005262992.1:n.1402+62_1402+63insAGA
XM_017008037.1:c.1009+62_1009+63insAGA (CYP4V2) XP_016863526.1:n.1009+62_1009+63insAGA
NM_207352.4:c.1405+62_1405+63insAGA (CYP4V2) MANE Select NP_997235.3:n.1405+62_1405+63insAGA