Canonical Allele Identifier: CA1519891364
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209031_186209054delinsAGGGAAACTTTCTAATGTCTACCT , CM000666.2:g.186209031_186209054delinsAGGGAAACTTTCTAATGTCTACCT GRCh38
NC_000004.11:g.187130185_187130208delinsAGGGAAACTTTCTAATGTCTACCT , CM000666.1:g.187130185_187130208delinsAGGGAAACTTTCTAATGTCTACCT GRCh37
NC_000004.10:g.187367179_187367202delinsAGGGAAACTTTCTAATGTCTACCT NCBI36
NG_007965.1:g.22512_22535delinsAGGGAAACTTTCTAATGTCTACCT
NG_012095.2:g.5053_5076delinsAGGGAAACTTTCTAATGTCTACCT

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1225+32_1226-39delinsAGGGAAACTTTCTAATGTCTACCT (CYP4V2) MANE Select ENSP00000368079.4:n.1225+32_1226-39delins...
ENST00000378802.4:c.1225+32_1226-39delinsAGGGAAACTTTCTAATGTCTACCT (CYP4V2) ENSP00000368079.4:n.1225+32_1226-39delins...
ENST00000502665.1:n.460+32_461-39delinsAGGGAAACTTTCTAATGTCTACCT (CYP4V2)
ENST00000507209.5:n.5923+32_5924-39delinsAGGGAAACTTTCTAATGTCTACCT (CYP4V2)
ENST00000511608.5:c.21+32_22-39delinsAGGGAAACTTTCTAATGTCTACCT (KLKB1)
ENST00000513354.5:n.315+32_316-39delinsAGGGAAACTTTCTAATGTCTACCT (CYP4V2)
NM_207352.3:c.1225+32_1226-39delinsAGGGAAACTTTCTAATGTCTACCT (CYP4V2) NP_997235.3:n.1225+32_1226-39delinsAGGGAA...
XM_005262935.2:c.1225+32_1226-42delinsAGGGAAACTTTCTAATGTCTACCT (CYP4V2) XP_005262992.1:n.1225+32_1226-42delinsAGG...
XM_006714184.2:c.829+32_830-39delinsAGGGAAACTTTCTAATGTCTACCT (CYP4V2) XP_006714247.1:n.829+32_830-39delinsAGGGA...
XM_005262935.4:c.1225+32_1226-42delinsAGGGAAACTTTCTAATGTCTACCT (CYP4V2) XP_005262992.1:n.1225+32_1226-42delinsAGG...
XM_017008037.1:c.829+32_830-39delinsAGGGAAACTTTCTAATGTCTACCT (CYP4V2) XP_016863526.1:n.829+32_830-39delinsAGGGA...
NM_207352.4:c.1225+32_1226-39delinsAGGGAAACTTTCTAATGTCTACCT (CYP4V2) MANE Select NP_997235.3:n.1225+32_1226-39delinsAGGGAA...