Canonical Allele Identifier: CA557395766
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs1561438355

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209098del , CM000666.2:g.186209098del GRCh38
NC_000004.11:g.187130252del , CM000666.1:g.187130252del GRCh37
NC_000004.10:g.187367246del NCBI36
NG_007965.1:g.22579del
NG_012095.2:g.5120del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1231del (CYP4V2) MANE Select ENSP00000368079.4:p.Tyr411ThrfsTer4
ENST00000378802.4:c.1231del (CYP4V2) ENSP00000368079.4:p.Tyr411ThrfsTer4
ENST00000502665.1:n.466del (CYP4V2)
ENST00000507209.5:n.5929del (CYP4V2)
ENST00000511608.5:c.27del (KLKB1)
ENST00000513354.5:n.321del (CYP4V2)
NM_207352.3:c.1231del (CYP4V2) NP_997235.3:p.Tyr411ThrfsTer4
XM_005262935.2:c.1228del (CYP4V2) XP_005262992.1:p.Tyr410ThrfsTer4
XM_006714184.2:c.835del (CYP4V2) XP_006714247.1:p.Tyr279ThrfsTer4
XM_005262935.4:c.1228del (CYP4V2) XP_005262992.1:p.Tyr410ThrfsTer4
XM_017008037.1:c.835del (CYP4V2) XP_016863526.1:p.Tyr279ThrfsTer4
NM_207352.4:c.1231del (CYP4V2) MANE Select NP_997235.3:p.Tyr411ThrfsTer4