Canonical Allele Identifier: CA1519891523
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209320_186209321delinsTG , CM000666.2:g.186209320_186209321delinsTG GRCh38
NC_000004.11:g.187130474_187130475delinsTG , CM000666.1:g.187130474_187130475delinsTG GRCh37
NC_000004.10:g.187367468_187367469delinsTG NCBI36
NG_007965.1:g.22801_22802delinsTG
NG_012095.2:g.5342_5343delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1405+48_1405+49delinsTG (CYP4V2) MANE Select ENSP00000368079.4:n.1405+48_1405+49delins...
ENST00000378802.4:c.1405+48_1405+49delinsTG (CYP4V2) ENSP00000368079.4:n.1405+48_1405+49delins...
ENST00000502665.1:n.640+48_640+49delinsTG (CYP4V2)
ENST00000507209.5:n.6103+48_6103+49delinsTG (CYP4V2)
ENST00000511608.5:c.201+48_201+49delinsTG (KLKB1)
ENST00000513354.5:n.495+48_495+49delinsTG (CYP4V2)
NM_207352.3:c.1405+48_1405+49delinsTG (CYP4V2) NP_997235.3:n.1405+48_1405+49delinsTG
XM_005262935.2:c.1402+48_1402+49delinsTG (CYP4V2) XP_005262992.1:n.1402+48_1402+49delinsTG
XM_006714184.2:c.1009+48_1009+49delinsTG (CYP4V2) XP_006714247.1:n.1009+48_1009+49delinsTG
XM_005262935.4:c.1402+48_1402+49delinsTG (CYP4V2) XP_005262992.1:n.1402+48_1402+49delinsTG
XM_017008037.1:c.1009+48_1009+49delinsTG (CYP4V2) XP_016863526.1:n.1009+48_1009+49delinsTG
NM_207352.4:c.1405+48_1405+49delinsTG (CYP4V2) MANE Select NP_997235.3:n.1405+48_1405+49delinsTG