Canonical Allele Identifier: CA2764868906
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209348_186209349insACA , CM000666.2:g.186209348_186209349insACA GRCh38
NC_000004.11:g.187130502_187130503insACA , CM000666.1:g.187130502_187130503insACA GRCh37
NC_000004.10:g.187367496_187367497insACA NCBI36
NG_007965.1:g.22829_22830insACA
NG_012095.2:g.5370_5371insACA

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1405+76_1405+77insACA (CYP4V2) MANE Select ENSP00000368079.4:n.1405+76_1405+77insACA
ENST00000378802.4:c.1405+76_1405+77insACA (CYP4V2) ENSP00000368079.4:n.1405+76_1405+77insACA
ENST00000502665.1:n.640+76_640+77insACA (CYP4V2)
ENST00000507209.5:n.6103+76_6103+77insACA (CYP4V2)
ENST00000511608.5:c.201+76_201+77insACA (KLKB1)
ENST00000513354.5:n.495+76_495+77insACA (CYP4V2)
NM_207352.3:c.1405+76_1405+77insACA (CYP4V2) NP_997235.3:n.1405+76_1405+77insACA
XM_005262935.2:c.1402+76_1402+77insACA (CYP4V2) XP_005262992.1:n.1402+76_1402+77insACA
XM_006714184.2:c.1009+76_1009+77insACA (CYP4V2) XP_006714247.1:n.1009+76_1009+77insACA
XM_005262935.4:c.1402+76_1402+77insACA (CYP4V2) XP_005262992.1:n.1402+76_1402+77insACA
XM_017008037.1:c.1009+76_1009+77insACA (CYP4V2) XP_016863526.1:n.1009+76_1009+77insACA
NM_207352.4:c.1405+76_1405+77insACA (CYP4V2) MANE Select NP_997235.3:n.1405+76_1405+77insACA