Canonical Allele Identifier: CA2764868918
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209369_186209370insAGG , CM000666.2:g.186209369_186209370insAGG GRCh38
NC_000004.11:g.187130523_187130524insAGG , CM000666.1:g.187130523_187130524insAGG GRCh37
NC_000004.10:g.187367517_187367518insAGG NCBI36
NG_007965.1:g.22850_22851insAGG
NG_012095.2:g.5391_5392insAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1405+97_1405+98insAGG (CYP4V2) MANE Select ENSP00000368079.4:n.1405+97_1405+98insAGG
ENST00000378802.4:c.1405+97_1405+98insAGG (CYP4V2) ENSP00000368079.4:n.1405+97_1405+98insAGG
ENST00000502665.1:n.640+97_640+98insAGG (CYP4V2)
ENST00000507209.5:n.6103+97_6103+98insAGG (CYP4V2)
ENST00000511608.5:c.201+97_201+98insAGG (KLKB1)
ENST00000513354.5:n.495+97_495+98insAGG (CYP4V2)
NM_207352.3:c.1405+97_1405+98insAGG (CYP4V2) NP_997235.3:n.1405+97_1405+98insAGG
XM_005262935.2:c.1402+97_1402+98insAGG (CYP4V2) XP_005262992.1:n.1402+97_1402+98insAGG
XM_006714184.2:c.1009+97_1009+98insAGG (CYP4V2) XP_006714247.1:n.1009+97_1009+98insAGG
XM_005262935.4:c.1402+97_1402+98insAGG (CYP4V2) XP_005262992.1:n.1402+97_1402+98insAGG
XM_017008037.1:c.1009+97_1009+98insAGG (CYP4V2) XP_016863526.1:n.1009+97_1009+98insAGG
NM_207352.4:c.1405+97_1405+98insAGG (CYP4V2) MANE Select NP_997235.3:n.1405+97_1405+98insAGG