Canonical Allele Identifier: CA2672900243

Gene: KLKB1

Linked Data

• gnomAD v4: 4-186257290-A-AAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186257292_186257295dup , CM000666.2:g.186257292_186257295dup	GRCh38
NC_000004.11:g.187178446_187178449dup , CM000666.1:g.187178446_187178449dup	GRCh37
NC_000004.10:g.187415440_187415443dup	NCBI36
NG_012095.2:g.53314_53317dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264690.11:c.1652_1655dup MANE Select	ENSP00000264690.6:p.Tyr552Ter
ENST00000264690.10:c.1652_1655dup	ENSP00000264690.6:p.Tyr552Ter
ENST00000511406.5:n.1713_1716dup
ENST00000511608.5:c.1795_1798dup
ENST00000513864.2:c.1472-729_1472-726dup	ENSP00000424469.2:n.1472-729_1472-726dup
NM_000892.3:c.1652_1655dup	NP_000883.2:p.Tyr552Ter
XM_011531930.1:c.1685_1688dup	XP_011530232.1:p.Tyr563Ter
XM_011531931.1:c.1685_1688dup	XP_011530233.1:p.Tyr563Ter
XM_011531932.1:c.1571_1574dup	XP_011530234.1:p.Tyr525Ter
XM_011531933.1:c.1571_1574dup	XP_011530235.1:p.Tyr525Ter
XM_011531934.1:c.1046_1049dup	XP_011530236.1:p.Tyr350Ter
NM_000892.4:c.1652_1655dup	NP_000883.2:p.Tyr552Ter
NM_001318394.1:c.1472-729_1472-726dup	NP_001305323.1:n.1472-729_1472-726dup
NM_001318396.1:c.1046_1049dup	NP_001305325.1:p.Tyr350Ter
XM_011531930.2:c.1685_1688dup	XP_011530232.1:p.Tyr563Ter
XM_017008181.1:c.1685_1688dup	XP_016863670.1:p.Tyr563Ter
XM_017008182.1:c.1619-729_1619-726dup	XP_016863671.1:n.1619-729_1619-726dup
XM_017008183.1:c.1586-729_1586-726dup	XP_016863672.1:n.1586-729_1586-726dup
XM_017008184.1:c.1046_1049dup	XP_016863673.1:p.Tyr350Ter
NM_000892.5:c.1652_1655dup MANE Select	NP_000883.2:p.Tyr552Ter
NM_001318394.2:c.1472-729_1472-726dup	NP_001305323.1:n.1472-729_1472-726dup
NM_001318396.2:c.1046_1049dup	NP_001305325.1:p.Tyr350Ter