Canonical Allele Identifier: CA2764875338
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211319_186211320insACAG , CM000666.2:g.186211319_186211320insACAG GRCh38
NC_000004.11:g.187132473_187132474insACAG , CM000666.1:g.187132473_187132474insACAG GRCh37
NC_000004.10:g.187369467_187369468insACAG NCBI36
NG_007965.1:g.24800_24801insACAG
NG_012095.2:g.7341_7342insACAG

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*678_*679insACAG (CYP4V2) MANE Select ENSP00000368079.4:n.*678_*679insACAG
ENST00000502665.1:n.1491_1492insACAG (CYP4V2)
ENST00000507209.5:n.6954_6955insACAG (CYP4V2)
ENST00000511608.5:c.201+2047_201+2048insACAG (KLKB1)
NM_207352.3:c.*678_*679insACAG (CYP4V2) NP_997235.3:n.*678_*679insACAG
XM_005262935.2:c.*678_*679insACAG (CYP4V2) XP_005262992.1:n.*678_*679insACAG
XM_006714184.2:c.*678_*679insACAG (CYP4V2) XP_006714247.1:n.*678_*679insACAG
XM_011531931.1:c.-3390_-3389insACAG (KLKB1) XP_011530233.1:n.-3390_-3389insACAG
XM_011531932.1:c.-3640_-3639insACAG (KLKB1) XP_011530234.1:n.-3640_-3639insACAG
XM_011531933.1:c.-3454_-3453insACAG (KLKB1) XP_011530235.1:n.-3454_-3453insACAG
XM_005262935.4:c.*678_*679insACAG (CYP4V2) XP_005262992.1:n.*678_*679insACAG
XM_017008037.1:c.*678_*679insACAG (CYP4V2) XP_016863526.1:n.*678_*679insACAG
NM_207352.4:c.*678_*679insACAG (CYP4V2) MANE Select NP_997235.3:n.*678_*679insACAG