Canonical Allele Identifier: CA2578249724
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209080_186209090del , CM000666.2:g.186209080_186209090del GRCh38
NC_000004.11:g.187130234_187130244del , CM000666.1:g.187130234_187130244del GRCh37
NC_000004.10:g.187367228_187367238del NCBI36
NG_007965.1:g.22561_22571del
NG_012095.2:g.5102_5112del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1226-13_1226-3del (CYP4V2) MANE Select ENSP00000368079.4:n.1226-13_1226-3del
ENST00000378802.4:c.1226-13_1226-3del (CYP4V2) ENSP00000368079.4:n.1226-13_1226-3del
ENST00000502665.1:n.461-13_461-3del (CYP4V2)
ENST00000507209.5:n.5924-13_5924-3del (CYP4V2)
ENST00000511608.5:c.22-13_22-3del (KLKB1)
ENST00000513354.5:n.316-13_316-3del (CYP4V2)
NM_207352.3:c.1226-13_1226-3del (CYP4V2) NP_997235.3:n.1226-13_1226-3del
XM_005262935.2:c.1226-16_1226-6del (CYP4V2) XP_005262992.1:n.1226-16_1226-6del
XM_006714184.2:c.830-13_830-3del (CYP4V2) XP_006714247.1:n.830-13_830-3del
XM_005262935.4:c.1226-16_1226-6del (CYP4V2) XP_005262992.1:n.1226-16_1226-6del
XM_017008037.1:c.830-13_830-3del (CYP4V2) XP_016863526.1:n.830-13_830-3del
NM_207352.4:c.1226-13_1226-3del (CYP4V2) MANE Select NP_997235.3:n.1226-13_1226-3del
Search 100 bp 5'
Search 100 bp 3'