Canonical Allele Identifier: CA2830535348
Gene: KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186232347_186232349del , CM000666.2:g.186232347_186232349del GRCh38
NC_000004.11:g.187153501_187153503del , CM000666.1:g.187153501_187153503del GRCh37
NC_000004.10:g.187390495_187390497del NCBI36
NG_012095.2:g.28369_28371del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264690.11:c.221+58_221+60del MANE Select ENSP00000264690.6:n.221+58_221+60del
ENST00000264690.10:c.221+58_221+60del ENSP00000264690.6:n.221+58_221+60del
ENST00000428196.5:c.221+58_221+60del ENSP00000412366.1:n.221+58_221+60del
ENST00000446598.6:c.107+58_107+60del ENSP00000415563.2:n.107+58_107+60del
ENST00000511406.5:n.251+58_251+60del
ENST00000511608.5:c.364+58_364+60del
ENST00000513864.2:c.107+58_107+60del ENSP00000424469.2:n.107+58_107+60del
NM_000892.3:c.221+58_221+60del NP_000883.2:n.221+58_221+60del
XM_011531930.1:c.221+58_221+60del XP_011530232.1:n.221+58_221+60del
XM_011531931.1:c.221+58_221+60del XP_011530233.1:n.221+58_221+60del
XM_011531932.1:c.107+58_107+60del XP_011530234.1:n.107+58_107+60del
XM_011531933.1:c.107+58_107+60del XP_011530235.1:n.107+58_107+60del
XM_011531934.1:c.-417+58_-417+60del XP_011530236.1:n.-417+58_-417+60del
NM_000892.4:c.221+58_221+60del NP_000883.2:n.221+58_221+60del
NM_001318394.1:c.107+58_107+60del NP_001305323.1:n.107+58_107+60del
NM_001318396.1:c.-417+58_-417+60del NP_001305325.1:n.-417+58_-417+60del
XM_011531930.2:c.221+58_221+60del XP_011530232.1:n.221+58_221+60del
XM_017008181.1:c.221+58_221+60del XP_016863670.1:n.221+58_221+60del
XM_017008182.1:c.221+58_221+60del XP_016863671.1:n.221+58_221+60del
XM_017008183.1:c.221+58_221+60del XP_016863672.1:n.221+58_221+60del
NM_000892.5:c.221+58_221+60del MANE Select NP_000883.2:n.221+58_221+60del
NM_001318394.2:c.107+58_107+60del NP_001305323.1:n.107+58_107+60del
NM_001318396.2:c.-417+58_-417+60del NP_001305325.1:n.-417+58_-417+60del