Canonical Allele Identifier: CA1087963137

Gene: RNF8

Linked Data

• gnomAD v3: 6-37386283-A-AGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT
• gnomAD v4: 6-37386283-A-AGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37386283_37386284insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT , CM000668.2:g.37386283_37386284insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	GRCh38
NC_000006.11:g.37354059_37354060insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT , CM000668.1:g.37354059_37354060insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	GRCh37
NC_000006.10:g.37462037_37462038insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373479.9:c.1442-4459_1442-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT MANE Select	ENSP00000362578.4:n.1442-4459_1442-4458insGAACCTTGAATTCTTTATT...
ENST00000229866.10:c.*1251-4459_*1251-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	ENSP00000229866.6:n.*1251-4459_*1251-4458insGAACCTTGAATTCTTTA...
ENST00000373479.8:c.1442-4459_1442-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	ENSP00000362578.4:n.1442-4459_1442-4458insGAACCTTGAATTCTTTATT...
ENST00000469731.5:c.1237-4459_1237-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	ENSP00000418879.1:n.1237-4459_1237-4458insGAACCTTGAATTCTTTATT...
ENST00000498460.1:c.515-4459_515-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT
NM_003958.3:c.1442-4459_1442-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	NP_003949.1:n.1442-4459_1442-4458insGAACCTTGAATTCTTTATTGAAGGT...
NM_183078.2:c.1237-4459_1237-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	NP_898901.1:n.1237-4459_1237-4458insGAACCTTGAATTCTTTATTGAAGGT...
NR_046399.1:n.1741-4459_1741-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT
XM_006715241.2:c.1352-4459_1352-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	XP_006715304.1:n.1352-4459_1352-4458insGAACCTTGAATTCTTTATTGAA...
XM_006715242.2:c.1147-4459_1147-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	XP_006715305.1:n.1147-4459_1147-4458insGAACCTTGAATTCTTTATTGAA...
XR_427853.2:n.1462-4459_1462-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT
XR_427854.2:n.1666-4459_1666-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT
XR_427855.2:n.1461-4459_1461-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT
XR_427857.2:n.1371-4459_1371-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT
XM_006715241.3:c.1352-4459_1352-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	XP_006715304.1:n.1352-4459_1352-4458insGAACCTTGAATTCTTTATTGAA...
XM_006715242.3:c.1147-4459_1147-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	XP_006715305.1:n.1147-4459_1147-4458insGAACCTTGAATTCTTTATTGAA...
XM_017011462.1:c.1271-4459_1271-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	XP_016866951.1:n.1271-4459_1271-4458insGAACCTTGAATTCTTTATTGAA...
XM_017011463.1:c.1066-4459_1066-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	XP_016866952.1:n.1066-4459_1066-4458insGAACCTTGAATTCTTTATTGAA...
XM_017011464.1:c.1033-4459_1033-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	XP_016866953.1:n.1033-4459_1033-4458insGAACCTTGAATTCTTTATTGAA...
XR_001743731.2:n.1656-4459_1656-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT
XR_001743734.2:n.1739-4459_1739-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT
XR_427853.3:n.1451-4459_1451-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT
NM_003958.4:c.1442-4459_1442-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT MANE Select	NP_003949.1:n.1442-4459_1442-4458insGAACCTTGAATTCTTTATTGAAGGT...
NM_183078.3:c.1237-4459_1237-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT	NP_898901.1:n.1237-4459_1237-4458insGAACCTTGAATTCTTTATTGAAGGT...
NR_046399.2:n.1730-4459_1730-4458insGAACCTTGAATTCTTTATTGAAGGTTCTAGGACTTCCTGGAAGT