Canonical Allele Identifier: CA2578249726
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209306_186209324del , CM000666.2:g.186209306_186209324del GRCh38
NC_000004.11:g.187130460_187130478del , CM000666.1:g.187130460_187130478del GRCh37
NC_000004.10:g.187367454_187367472del NCBI36
NG_007965.1:g.22787_22805del
NG_012095.2:g.5328_5346del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1405+34_1405+52del (CYP4V2) MANE Select ENSP00000368079.4:n.1405+34_1405+52del
ENST00000378802.4:c.1405+34_1405+52del (CYP4V2) ENSP00000368079.4:n.1405+34_1405+52del
ENST00000502665.1:n.640+34_640+52del (CYP4V2)
ENST00000507209.5:n.6103+34_6103+52del (CYP4V2)
ENST00000511608.5:c.201+34_201+52del (KLKB1)
ENST00000513354.5:n.495+34_495+52del (CYP4V2)
NM_207352.3:c.1405+34_1405+52del (CYP4V2) NP_997235.3:n.1405+34_1405+52del
XM_005262935.2:c.1402+34_1402+52del (CYP4V2) XP_005262992.1:n.1402+34_1402+52del
XM_006714184.2:c.1009+34_1009+52del (CYP4V2) XP_006714247.1:n.1009+34_1009+52del
XM_005262935.4:c.1402+34_1402+52del (CYP4V2) XP_005262992.1:n.1402+34_1402+52del
XM_017008037.1:c.1009+34_1009+52del (CYP4V2) XP_016863526.1:n.1009+34_1009+52del
NM_207352.4:c.1405+34_1405+52del (CYP4V2) MANE Select NP_997235.3:n.1405+34_1405+52del