Canonical Allele Identifier: CA15888330

Gene: DEF8

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89960104T>C , CM000678.2:g.89960104T>C	GRCh38
NC_000016.9:g.90026512T>C , CM000678.1:g.90026512T>C	GRCh37
NC_000016.8:g.88554013T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563594.6:c.515-827T>C MANE Select	ENSP00000458019.1:n.515-827T>C
ENST00000268676.11:c.698-827T>C	ENSP00000268676.7:n.698-827T>C
ENST00000561959.5:c.372+2444T>C	ENSP00000456706.1:n.372+2444T>C
ENST00000562578.5:c.497-827T>C	ENSP00000454534.1:n.497-827T>C
ENST00000562986.5:c.335-827T>C	ENSP00000455987.1:n.335-827T>C
ENST00000563594.5:c.515-827T>C	ENSP00000458019.1:n.515-827T>C
ENST00000563795.1:c.515-827T>C	ENSP00000457627.1:n.515-827T>C
ENST00000563848.1:n.245-827T>C
ENST00000567874.5:c.335-827T>C	ENSP00000456095.1:n.335-827T>C
ENST00000568760.5:n.551-827T>C
ENST00000569453.5:c.515-827T>C	ENSP00000456501.1:n.515-827T>C
ENST00000570182.5:c.485-827T>C	ENSP00000456799.1:n.485-827T>C
ENST00000617948.4:c.515-827T>C	ENSP00000482524.1:n.515-827T>C
NM_001242816.1:c.485-827T>C	NP_001229745.1:n.485-827T>C
NM_001242817.1:c.335-827T>C	NP_001229746.1:n.335-827T>C
NM_001242818.1:c.515-827T>C	NP_001229747.1:n.515-827T>C
NM_001242819.1:c.515-827T>C	NP_001229748.1:n.515-827T>C
NM_001242820.1:c.515-827T>C	NP_001229749.1:n.515-827T>C
NM_207514.2:c.698-827T>C	NP_997397.1:n.698-827T>C
XM_005256318.2:c.515-827T>C	XP_005256375.2:n.515-827T>C
XM_011523156.1:c.515-827T>C	XP_011521458.1:n.515-827T>C
XM_011523157.1:c.515-827T>C	XP_011521459.1:n.515-827T>C
XM_011523158.1:c.515-827T>C	XP_011521460.1:n.515-827T>C
XM_011523159.1:c.617-827T>C	XP_011521461.1:n.617-827T>C
XM_011523160.1:c.698-827T>C	XP_011521462.1:n.698-827T>C
XM_011523161.1:c.698-827T>C	XP_011521463.1:n.698-827T>C
XM_011523162.1:c.515-827T>C	XP_011521464.1:n.515-827T>C
XM_011523163.1:c.515-827T>C	XP_011521465.1:n.515-827T>C
XM_011523164.1:c.515-827T>C	XP_011521466.1:n.515-827T>C
XM_011523165.1:c.515-827T>C	XP_011521467.1:n.515-827T>C
XM_011523166.1:c.515-827T>C	XP_011521468.1:n.515-827T>C
XM_005256318.3:c.515-827T>C	XP_005256375.2:n.515-827T>C
XM_011523156.3:c.515-827T>C	XP_011521458.1:n.515-827T>C
XM_011523157.3:c.515-827T>C	XP_011521459.1:n.515-827T>C
XM_011523158.2:c.515-827T>C	XP_011521460.1:n.515-827T>C
XM_011523159.3:c.617-827T>C	XP_011521461.1:n.617-827T>C
XM_011523160.3:c.698-827T>C	XP_011521462.1:n.698-827T>C
XM_011523161.3:c.698-827T>C	XP_011521463.1:n.698-827T>C
XM_011523162.3:c.515-827T>C	XP_011521464.1:n.515-827T>C
XM_017023358.2:c.515-827T>C	XP_016878847.1:n.515-827T>C
XM_017023359.2:c.515-827T>C	XP_016878848.1:n.515-827T>C
XM_017023360.2:c.515-827T>C	XP_016878849.1:n.515-827T>C
XM_017023361.2:c.617-827T>C	XP_016878850.1:n.617-827T>C
XM_017023362.2:c.617-827T>C	XP_016878851.1:n.617-827T>C
XM_017023363.1:c.698-827T>C	XP_016878852.1:n.698-827T>C
XM_017023364.2:c.617-827T>C	XP_016878853.1:n.617-827T>C
XM_017023365.1:c.698-827T>C	XP_016878854.1:n.698-827T>C
XM_017023366.2:c.515-827T>C	XP_016878855.1:n.515-827T>C
XM_017023367.2:c.515-827T>C	XP_016878856.1:n.515-827T>C
XM_017023368.2:c.515-827T>C	XP_016878857.1:n.515-827T>C
XM_017023369.2:c.515-827T>C	XP_016878858.1:n.515-827T>C
NM_001242816.2:c.485-827T>C	NP_001229745.1:n.485-827T>C
NM_001242817.2:c.335-827T>C	NP_001229746.1:n.335-827T>C
NM_001242818.2:c.515-827T>C MANE Select	NP_001229747.1:n.515-827T>C
NM_207514.3:c.698-827T>C	NP_997397.1:n.698-827T>C
NM_001242820.2:c.515-827T>C	NP_001229749.1:n.515-827T>C