Canonical Allele Identifier: CA1519893872
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs1736770396

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212805del , CM000666.2:g.186212805del GRCh38
NC_000004.11:g.187133959del , CM000666.1:g.187133959del GRCh37
NC_000004.10:g.187370953del NCBI36
NG_007965.1:g.26286del
NG_012095.2:g.8827del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*2164del (CYP4V2) MANE Select ENSP00000368079.4:n.*2164del
ENST00000502665.1:n.2977del (CYP4V2)
ENST00000507209.5:n.8440del (CYP4V2)
ENST00000511608.5:c.201+3533del (KLKB1)
NM_207352.3:c.*2164del (CYP4V2) NP_997235.3:n.*2164del
XM_005262935.2:c.*2164del (CYP4V2) XP_005262992.1:n.*2164del
XM_006714184.2:c.*2164del (CYP4V2) XP_006714247.1:n.*2164del
XM_011531931.1:c.-1904del (KLKB1) XP_011530233.1:n.-1904del
XM_011531932.1:c.-2154del (KLKB1) XP_011530234.1:n.-2154del
XM_011531933.1:c.-1968del (KLKB1) XP_011530235.1:n.-1968del
XM_005262935.4:c.*2164del (CYP4V2) XP_005262992.1:n.*2164del
XM_017008037.1:c.*2164del (CYP4V2) XP_016863526.1:n.*2164del
NM_207352.4:c.*2164del (CYP4V2) MANE Select NP_997235.3:n.*2164del