Canonical Allele Identifier: CA2573055330

Gene: KRBOX4

Linked Data

• ClinVar Variation Id: 1339898
• ClinVar RCV Id: RCV001825281
• dbSNP Id: rs2146571577

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46471140_46471142delinsT , CM000685.2:g.46471140_46471142delinsT	GRCh38
NC_000023.10:g.46330575_46330577delinsT , CM000685.1:g.46330575_46330577delinsT	GRCh37
NC_000023.9:g.46215519_46215521delinsT	NCBI36
NG_022935.1:g.28952_28954delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344302.9:c.254-1610_254-1608delinsT MANE Select	ENSP00000345797.4:n.254-1610_254-1608delinsT
ENST00000298190.10:c.239-1610_239-1608delinsT	ENSP00000298190.6:n.239-1610_239-1608delinsT
ENST00000344302.8:c.254-1610_254-1608delinsT	ENSP00000345797.4:n.254-1610_254-1608delinsT
ENST00000377919.6:c.254-2_254delinsT
ENST00000478600.5:c.238+7847_238+7849delinsT	ENSP00000418146.1:n.238+7847_238+7849delinsT
ENST00000487081.1:c.254-2_254delinsT
NM_001129898.1:c.254-1610_254-1608delinsT	NP_001123370.1:n.254-1610_254-1608delinsT
NM_001129899.1:c.254-2_254delinsT
NM_001129900.1:c.239-2_239delinsT
NM_017776.2:c.239-1610_239-1608delinsT	NP_060246.2:n.239-1610_239-1608delinsT
NM_001129898.2:c.254-1610_254-1608delinsT MANE Select	NP_001123370.1:n.254-1610_254-1608delinsT
NM_001129899.2:c.254-2_254delinsT
NM_001129900.2:c.239-2_239delinsT
NM_017776.3:c.239-1610_239-1608delinsT	NP_060246.2:n.239-1610_239-1608delinsT