Canonical Allele Identifier: CA2764875421
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211383_186211384insA , CM000666.2:g.186211383_186211384insA GRCh38
NC_000004.11:g.187132537_187132538insA , CM000666.1:g.187132537_187132538insA GRCh37
NC_000004.10:g.187369531_187369532insA NCBI36
NG_007965.1:g.24864_24865insA
NG_012095.2:g.7405_7406insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*742_*743insA (CYP4V2) MANE Select ENSP00000368079.4:n.*742_*743insA
ENST00000502665.1:n.1555_1556insA (CYP4V2)
ENST00000507209.5:n.7018_7019insA (CYP4V2)
ENST00000511608.5:c.201+2111_201+2112insA (KLKB1)
NM_207352.3:c.*742_*743insA (CYP4V2) NP_997235.3:n.*742_*743insA
XM_005262935.2:c.*742_*743insA (CYP4V2) XP_005262992.1:n.*742_*743insA
XM_006714184.2:c.*742_*743insA (CYP4V2) XP_006714247.1:n.*742_*743insA
XM_011531931.1:c.-3326_-3325insA (KLKB1) XP_011530233.1:n.-3326_-3325insA
XM_011531932.1:c.-3576_-3575insA (KLKB1) XP_011530234.1:n.-3576_-3575insA
XM_011531933.1:c.-3390_-3389insA (KLKB1) XP_011530235.1:n.-3390_-3389insA
XM_005262935.4:c.*742_*743insA (CYP4V2) XP_005262992.1:n.*742_*743insA
XM_017008037.1:c.*742_*743insA (CYP4V2) XP_016863526.1:n.*742_*743insA
NM_207352.4:c.*742_*743insA (CYP4V2) MANE Select NP_997235.3:n.*742_*743insA