Canonical Allele Identifier: CA3163049

Gene: KLKB1

Linked Data

• ClinVar Variation Id: 711923
• ClinVar RCV Id: RCV000883758 ; RCV002274107 ; RCV002466263 ; RCV003955868
• dbSNP Id: rs560588447
• ExAC: 4:187158050 G / GT
• gnomAD v2: 4-187158050-G-GT
• gnomAD v3: 4-186236896-G-GT
• gnomAD v4: 4-186236896-G-GT
• MyVariant Identifiers: chr4:g.187158051_187158052insT (hg19) ; chr4:g.187158050_187158051insT (hg19) ; chr4:g.186236897_186236898insT (hg38) ; chr4:g.186236896_186236897insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186236903dup , CM000666.2:g.186236903dup	GRCh38
NC_000004.11:g.187158057dup , CM000666.1:g.187158057dup	GRCh37
NC_000004.10:g.187395051dup	NCBI36
NG_012095.2:g.32925dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264690.11:c.451dup MANE Select	ENSP00000264690.6:p.Ser151PhefsTer?
ENST00000264690.10:c.451dup	ENSP00000264690.6:p.Ser151PhefsTer?
ENST00000446598.6:c.337dup	ENSP00000415563.2:p.Ser113PhefsTer?
ENST00000511406.5:n.481dup
ENST00000511608.5:c.594dup
ENST00000513864.2:c.337dup	ENSP00000424469.2:p.Ser113PhefsTer?
NM_000892.3:c.451dup	NP_000883.2:p.Ser151PhefsTer?
XM_011531930.1:c.451dup	XP_011530232.1:p.Ser151PhefsTer?
XM_011531931.1:c.451dup	XP_011530233.1:p.Ser151PhefsTer?
XM_011531932.1:c.337dup	XP_011530234.1:p.Ser113PhefsTer?
XM_011531933.1:c.337dup	XP_011530235.1:p.Ser113PhefsTer?
XM_011531934.1:c.-187dup	XP_011530236.1:n.-187dup
NM_000892.4:c.451dup	NP_000883.2:p.Ser151PhefsTer?
NM_001318394.1:c.337dup	NP_001305323.1:p.Ser113PhefsTer?
NM_001318396.1:c.-187dup	NP_001305325.1:n.-187dup
XM_011531930.2:c.451dup	XP_011530232.1:p.Ser151PhefsTer?
XM_017008181.1:c.451dup	XP_016863670.1:p.Ser151PhefsTer?
XM_017008182.1:c.451dup	XP_016863671.1:p.Ser151PhefsTer?
XM_017008183.1:c.451dup	XP_016863672.1:p.Ser151PhefsTer?
NM_000892.5:c.451dup MANE Select	NP_000883.2:p.Ser151PhefsTer?
NM_001318394.2:c.337dup	NP_001305323.1:p.Ser113PhefsTer?
NM_001318396.2:c.-187dup	NP_001305325.1:n.-187dup