Canonical Allele Identifier: CA2764868921
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209371_186209372del , CM000666.2:g.186209371_186209372del GRCh38
NC_000004.11:g.187130525_187130526del , CM000666.1:g.187130525_187130526del GRCh37
NC_000004.10:g.187367519_187367520del NCBI36
NG_007965.1:g.22852_22853del
NG_012095.2:g.5393_5394del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1405+99_1405+100del (CYP4V2) MANE Select ENSP00000368079.4:n.1405+99_1405+100del
ENST00000378802.4:c.1405+99_1405+100del (CYP4V2) ENSP00000368079.4:n.1405+99_1405+100del
ENST00000502665.1:n.640+99_640+100del (CYP4V2)
ENST00000507209.5:n.6103+99_6103+100del (CYP4V2)
ENST00000511608.5:c.201+99_201+100del (KLKB1)
ENST00000513354.5:n.495+99_495+100del (CYP4V2)
NM_207352.3:c.1405+99_1405+100del (CYP4V2) NP_997235.3:n.1405+99_1405+100del
XM_005262935.2:c.1402+99_1402+100del (CYP4V2) XP_005262992.1:n.1402+99_1402+100del
XM_006714184.2:c.1009+99_1009+100del (CYP4V2) XP_006714247.1:n.1009+99_1009+100del
XM_005262935.4:c.1402+99_1402+100del (CYP4V2) XP_005262992.1:n.1402+99_1402+100del
XM_017008037.1:c.1009+99_1009+100del (CYP4V2) XP_016863526.1:n.1009+99_1009+100del
NM_207352.4:c.1405+99_1405+100del (CYP4V2) MANE Select NP_997235.3:n.1405+99_1405+100del