Canonical Allele Identifier: CA2523996490

Gene: KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186236830del , CM000666.2:g.186236830del	GRCh38
NC_000004.11:g.187157984del , CM000666.1:g.187157984del	GRCh37
NC_000004.10:g.187394978del	NCBI36
NG_012095.2:g.32852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264690.11:c.378del MANE Select	ENSP00000264690.6:p.Phe126LeufsTer?
ENST00000264690.10:c.378del	ENSP00000264690.6:p.Phe126LeufsTer?
ENST00000428196.5:c.378del	ENSP00000412366.1:p.Phe126LeufsTer?
ENST00000446598.6:c.264del	ENSP00000415563.2:p.Phe88LeufsTer?
ENST00000511406.5:n.408del
ENST00000511608.5:c.521del
ENST00000513864.2:c.264del	ENSP00000424469.2:p.Phe88LeufsTer?
NM_000892.3:c.378del	NP_000883.2:p.Phe126LeufsTer?
XM_011531930.1:c.378del	XP_011530232.1:p.Phe126LeufsTer?
XM_011531931.1:c.378del	XP_011530233.1:p.Phe126LeufsTer?
XM_011531932.1:c.264del	XP_011530234.1:p.Phe88LeufsTer?
XM_011531933.1:c.264del	XP_011530235.1:p.Phe88LeufsTer?
XM_011531934.1:c.-260del	XP_011530236.1:n.-260del
NM_000892.4:c.378del	NP_000883.2:p.Phe126LeufsTer?
NM_001318394.1:c.264del	NP_001305323.1:p.Phe88LeufsTer?
NM_001318396.1:c.-260del	NP_001305325.1:n.-260del
XM_011531930.2:c.378del	XP_011530232.1:p.Phe126LeufsTer?
XM_017008181.1:c.378del	XP_016863670.1:p.Phe126LeufsTer?
XM_017008182.1:c.378del	XP_016863671.1:p.Phe126LeufsTer?
XM_017008183.1:c.378del	XP_016863672.1:p.Phe126LeufsTer?
NM_000892.5:c.378del MANE Select	NP_000883.2:p.Phe126LeufsTer?
NM_001318394.2:c.264del	NP_001305323.1:p.Phe88LeufsTer?
NM_001318396.2:c.-260del	NP_001305325.1:n.-260del