Canonical Allele Identifier: CA2578250118

Gene: KLKB1

Linked Data

• gnomAD v4: 4-186257173-TTTAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186257177_186257181del , CM000666.2:g.186257177_186257181del	GRCh38
NC_000004.11:g.187178331_187178335del , CM000666.1:g.187178331_187178335del	GRCh37
NC_000004.10:g.187415325_187415329del	NCBI36
NG_012095.2:g.53199_53203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264690.11:c.1586-49_1586-45del MANE Select	ENSP00000264690.6:n.1586-49_1586-45del
ENST00000264690.10:c.1586-49_1586-45del	ENSP00000264690.6:n.1586-49_1586-45del
ENST00000511406.5:n.1647-49_1647-45del
ENST00000511608.5:c.1729-49_1729-45del
ENST00000513864.2:c.1472-844_1472-840del	ENSP00000424469.2:n.1472-844_1472-840del
NM_000892.3:c.1586-49_1586-45del	NP_000883.2:n.1586-49_1586-45del
XM_011531930.1:c.1619-49_1619-45del	XP_011530232.1:n.1619-49_1619-45del
XM_011531931.1:c.1619-49_1619-45del	XP_011530233.1:n.1619-49_1619-45del
XM_011531932.1:c.1505-49_1505-45del	XP_011530234.1:n.1505-49_1505-45del
XM_011531933.1:c.1505-49_1505-45del	XP_011530235.1:n.1505-49_1505-45del
XM_011531934.1:c.980-49_980-45del	XP_011530236.1:n.980-49_980-45del
NM_000892.4:c.1586-49_1586-45del	NP_000883.2:n.1586-49_1586-45del
NM_001318394.1:c.1472-844_1472-840del	NP_001305323.1:n.1472-844_1472-840del
NM_001318396.1:c.980-49_980-45del	NP_001305325.1:n.980-49_980-45del
XM_011531930.2:c.1619-49_1619-45del	XP_011530232.1:n.1619-49_1619-45del
XM_017008181.1:c.1619-49_1619-45del	XP_016863670.1:n.1619-49_1619-45del
XM_017008182.1:c.1619-844_1619-840del	XP_016863671.1:n.1619-844_1619-840del
XM_017008183.1:c.1586-844_1586-840del	XP_016863672.1:n.1586-844_1586-840del
XM_017008184.1:c.980-49_980-45del	XP_016863673.1:n.980-49_980-45del
NM_000892.5:c.1586-49_1586-45del MANE Select	NP_000883.2:n.1586-49_1586-45del
NM_001318394.2:c.1472-844_1472-840del	NP_001305323.1:n.1472-844_1472-840del
NM_001318396.2:c.980-49_980-45del	NP_001305325.1:n.980-49_980-45del