Canonical Allele Identifier: CA1519891547
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209380_186209381delinsTA , CM000666.2:g.186209380_186209381delinsTA GRCh38
NC_000004.11:g.187130534_187130535delinsTA , CM000666.1:g.187130534_187130535delinsTA GRCh37
NC_000004.10:g.187367528_187367529delinsTA NCBI36
NG_007965.1:g.22861_22862delinsTA
NG_012095.2:g.5402_5403delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1405+108_1405+109delinsTA (CYP4V2) MANE Select ENSP00000368079.4:n.1405+108_1405+109delinsTA
ENST00000378802.4:c.1405+108_1405+109delinsTA (CYP4V2) ENSP00000368079.4:n.1405+108_1405+109delinsTA
ENST00000502665.1:n.640+108_640+109delinsTA (CYP4V2)
ENST00000507209.5:n.6103+108_6103+109delinsTA (CYP4V2)
ENST00000511608.5:c.201+108_201+109delinsTA (KLKB1)
ENST00000513354.5:n.495+108_495+109delinsTA (CYP4V2)
NM_207352.3:c.1405+108_1405+109delinsTA (CYP4V2) NP_997235.3:n.1405+108_1405+109delinsTA
XM_005262935.2:c.1402+108_1402+109delinsTA (CYP4V2) XP_005262992.1:n.1402+108_1402+109delinsTA
XM_006714184.2:c.1009+108_1009+109delinsTA (CYP4V2) XP_006714247.1:n.1009+108_1009+109delinsTA
XM_005262935.4:c.1402+108_1402+109delinsTA (CYP4V2) XP_005262992.1:n.1402+108_1402+109delinsTA
XM_017008037.1:c.1009+108_1009+109delinsTA (CYP4V2) XP_016863526.1:n.1009+108_1009+109delinsTA
NM_207352.4:c.1405+108_1405+109delinsTA (CYP4V2) MANE Select NP_997235.3:n.1405+108_1405+109delinsTA