Canonical Allele Identifier: CA2672897586
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

gnomAD v4: 4-186209072-GTA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209074_186209075del , CM000666.2:g.186209074_186209075del GRCh38
NC_000004.11:g.187130228_187130229del , CM000666.1:g.187130228_187130229del GRCh37
NC_000004.10:g.187367222_187367223del NCBI36
NG_007965.1:g.22555_22556del
NG_012095.2:g.5096_5097del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1226-19_1226-18del (CYP4V2) MANE Select ENSP00000368079.4:n.1226-19_1226-18del
ENST00000378802.4:c.1226-19_1226-18del (CYP4V2) ENSP00000368079.4:n.1226-19_1226-18del
ENST00000502665.1:n.461-19_461-18del (CYP4V2)
ENST00000507209.5:n.5924-19_5924-18del (CYP4V2)
ENST00000511608.5:c.22-19_22-18del (KLKB1)
ENST00000513354.5:n.316-19_316-18del (CYP4V2)
NM_207352.3:c.1226-19_1226-18del (CYP4V2) NP_997235.3:n.1226-19_1226-18del
XM_005262935.2:c.1226-22_1226-21del (CYP4V2) XP_005262992.1:n.1226-22_1226-21del
XM_006714184.2:c.830-19_830-18del (CYP4V2) XP_006714247.1:n.830-19_830-18del
XM_005262935.4:c.1226-22_1226-21del (CYP4V2) XP_005262992.1:n.1226-22_1226-21del
XM_017008037.1:c.830-19_830-18del (CYP4V2) XP_016863526.1:n.830-19_830-18del
NM_207352.4:c.1226-19_1226-18del (CYP4V2) MANE Select NP_997235.3:n.1226-19_1226-18del
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