Canonical Allele Identifier: CA1519902488
Gene: KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186236864_186236865delinsCA , CM000666.2:g.186236864_186236865delinsCA GRCh38
NC_000004.11:g.187158018_187158019delinsCA , CM000666.1:g.187158018_187158019delinsCA GRCh37
NC_000004.10:g.187395012_187395013delinsCA NCBI36
NG_012095.2:g.32886_32887delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264690.11:c.412_413delinsCA MANE Select ENSP00000264690.6:p.Gln138=
ENST00000264690.10:c.412_413delinsCA ENSP00000264690.6:p.Gln138=
ENST00000428196.5:c.412_413delinsCA ENSP00000412366.1:p.Gln138=
ENST00000446598.6:c.298_299delinsCA ENSP00000415563.2:p.Gln100=
ENST00000511406.5:n.442_443delinsCA
ENST00000511608.5:c.555_556delinsCA
ENST00000513864.2:c.298_299delinsCA ENSP00000424469.2:p.Gln100=
NM_000892.3:c.412_413delinsCA NP_000883.2:p.Gln138=
XM_011531930.1:c.412_413delinsCA XP_011530232.1:p.Gln138=
XM_011531931.1:c.412_413delinsCA XP_011530233.1:p.Gln138=
XM_011531932.1:c.298_299delinsCA XP_011530234.1:p.Gln100=
XM_011531933.1:c.298_299delinsCA XP_011530235.1:p.Gln100=
XM_011531934.1:c.-226_-225delinsCA XP_011530236.1:n.-226_-225delinsCA
NM_000892.4:c.412_413delinsCA NP_000883.2:p.Gln138=
NM_001318394.1:c.298_299delinsCA NP_001305323.1:p.Gln100=
NM_001318396.1:c.-226_-225delinsCA NP_001305325.1:n.-226_-225delinsCA
XM_011531930.2:c.412_413delinsCA XP_011530232.1:p.Gln138=
XM_017008181.1:c.412_413delinsCA XP_016863670.1:p.Gln138=
XM_017008182.1:c.412_413delinsCA XP_016863671.1:p.Gln138=
XM_017008183.1:c.412_413delinsCA XP_016863672.1:p.Gln138=
NM_000892.5:c.412_413delinsCA MANE Select NP_000883.2:p.Gln138=
NM_001318394.2:c.298_299delinsCA NP_001305323.1:p.Gln100=
NM_001318396.2:c.-226_-225delinsCA NP_001305325.1:n.-226_-225delinsCA