Canonical Allele Identifier: CA2764868881
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209318_186209329del , CM000666.2:g.186209318_186209329del GRCh38
NC_000004.11:g.187130472_187130483del , CM000666.1:g.187130472_187130483del GRCh37
NC_000004.10:g.187367466_187367477del NCBI36
NG_007965.1:g.22799_22810del
NG_012095.2:g.5340_5351del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1405+46_1405+57del (CYP4V2) MANE Select ENSP00000368079.4:n.1405+46_1405+57del
ENST00000378802.4:c.1405+46_1405+57del (CYP4V2) ENSP00000368079.4:n.1405+46_1405+57del
ENST00000502665.1:n.640+46_640+57del (CYP4V2)
ENST00000507209.5:n.6103+46_6103+57del (CYP4V2)
ENST00000511608.5:c.201+46_201+57del (KLKB1)
ENST00000513354.5:n.495+46_495+57del (CYP4V2)
NM_207352.3:c.1405+46_1405+57del (CYP4V2) NP_997235.3:n.1405+46_1405+57del
XM_005262935.2:c.1402+46_1402+57del (CYP4V2) XP_005262992.1:n.1402+46_1402+57del
XM_006714184.2:c.1009+46_1009+57del (CYP4V2) XP_006714247.1:n.1009+46_1009+57del
XM_005262935.4:c.1402+46_1402+57del (CYP4V2) XP_005262992.1:n.1402+46_1402+57del
XM_017008037.1:c.1009+46_1009+57del (CYP4V2) XP_016863526.1:n.1009+46_1009+57del
NM_207352.4:c.1405+46_1405+57del (CYP4V2) MANE Select NP_997235.3:n.1405+46_1405+57del