Canonical Allele Identifier: CA2764868867
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209277_186209278del , CM000666.2:g.186209277_186209278del GRCh38
NC_000004.11:g.187130431_187130432del , CM000666.1:g.187130431_187130432del GRCh37
NC_000004.10:g.187367425_187367426del NCBI36
NG_007965.1:g.22758_22759del
NG_012095.2:g.5299_5300del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1405+5_1405+6del (CYP4V2) MANE Select ENSP00000368079.4:n.1405+5_1405+6del
ENST00000378802.4:c.1405+5_1405+6del (CYP4V2) ENSP00000368079.4:n.1405+5_1405+6del
ENST00000502665.1:n.640+5_640+6del (CYP4V2)
ENST00000507209.5:n.6103+5_6103+6del (CYP4V2)
ENST00000511608.5:c.201+5_201+6del (KLKB1)
ENST00000513354.5:n.495+5_495+6del (CYP4V2)
NM_207352.3:c.1405+5_1405+6del (CYP4V2) NP_997235.3:n.1405+5_1405+6del
XM_005262935.2:c.1402+5_1402+6del (CYP4V2) XP_005262992.1:n.1402+5_1402+6del
XM_006714184.2:c.1009+5_1009+6del (CYP4V2) XP_006714247.1:n.1009+5_1009+6del
XM_005262935.4:c.1402+5_1402+6del (CYP4V2) XP_005262992.1:n.1402+5_1402+6del
XM_017008037.1:c.1009+5_1009+6del (CYP4V2) XP_016863526.1:n.1009+5_1009+6del
NM_207352.4:c.1405+5_1405+6del (CYP4V2) MANE Select NP_997235.3:n.1405+5_1405+6del