Canonical Allele Identifier: CA917726279

Gene: RNF8

Linked Data

• dbSNP Id: rs1554194009
• gnomAD v3: 6-37386182-T-TTTGAAATGACAAGGTGCCAATCACTCTTATTGGCACC
• gnomAD v4: 6-37386182-T-TTTGAAATGACAAGGTGCCAATCACTCTTATTGGCACC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37386196_37386197insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG , CM000668.2:g.37386196_37386197insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	GRCh38
NC_000006.11:g.37353972_37353973insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG , CM000668.1:g.37353972_37353973insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	GRCh37
NC_000006.10:g.37461950_37461951insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373479.9:c.1442-4546_1442-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG MANE Select	ENSP00000362578.4:n.1442-4546_1442-4545insTGCCAATCACTCTTATTGG...
ENST00000229866.10:c.*1251-4546_*1251-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	ENSP00000229866.6:n.*1251-4546_*1251-4545insTGCCAATCACTCTTATT...
ENST00000373479.8:c.1442-4546_1442-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	ENSP00000362578.4:n.1442-4546_1442-4545insTGCCAATCACTCTTATTGG...
ENST00000469731.5:c.1237-4546_1237-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	ENSP00000418879.1:n.1237-4546_1237-4545insTGCCAATCACTCTTATTGG...
ENST00000498460.1:c.515-4546_515-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG
NM_003958.3:c.1442-4546_1442-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	NP_003949.1:n.1442-4546_1442-4545insTGCCAATCACTCTTATTGGCACCTT...
NM_183078.2:c.1237-4546_1237-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	NP_898901.1:n.1237-4546_1237-4545insTGCCAATCACTCTTATTGGCACCTT...
NR_046399.1:n.1741-4546_1741-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG
XM_006715241.2:c.1352-4546_1352-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	XP_006715304.1:n.1352-4546_1352-4545insTGCCAATCACTCTTATTGGCAC...
XM_006715242.2:c.1147-4546_1147-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	XP_006715305.1:n.1147-4546_1147-4545insTGCCAATCACTCTTATTGGCAC...
XR_427853.2:n.1462-4546_1462-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG
XR_427854.2:n.1666-4546_1666-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG
XR_427855.2:n.1461-4546_1461-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG
XR_427857.2:n.1371-4546_1371-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG
XM_006715241.3:c.1352-4546_1352-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	XP_006715304.1:n.1352-4546_1352-4545insTGCCAATCACTCTTATTGGCAC...
XM_006715242.3:c.1147-4546_1147-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	XP_006715305.1:n.1147-4546_1147-4545insTGCCAATCACTCTTATTGGCAC...
XM_017011462.1:c.1271-4546_1271-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	XP_016866951.1:n.1271-4546_1271-4545insTGCCAATCACTCTTATTGGCAC...
XM_017011463.1:c.1066-4546_1066-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	XP_016866952.1:n.1066-4546_1066-4545insTGCCAATCACTCTTATTGGCAC...
XM_017011464.1:c.1033-4546_1033-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	XP_016866953.1:n.1033-4546_1033-4545insTGCCAATCACTCTTATTGGCAC...
XR_001743731.2:n.1656-4546_1656-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG
XR_001743734.2:n.1739-4546_1739-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG
XR_427853.3:n.1451-4546_1451-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG
NM_003958.4:c.1442-4546_1442-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG MANE Select	NP_003949.1:n.1442-4546_1442-4545insTGCCAATCACTCTTATTGGCACCTT...
NM_183078.3:c.1237-4546_1237-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG	NP_898901.1:n.1237-4546_1237-4545insTGCCAATCACTCTTATTGGCACCTT...
NR_046399.2:n.1730-4546_1730-4545insTGCCAATCACTCTTATTGGCACCTTGAAATGACAAGG