Canonical Allele Identifier: CA1583216941

Gene: RAD50

Linked Data

• dbSNP Id: rs1750018333

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557331_132557332insAG , CM000667.2:g.132557331_132557332insAG	GRCh38
NC_000005.9:g.131893023_131893024insAG , CM000667.1:g.131893023_131893024insAG	GRCh37
NC_000005.8:g.131920922_131920923insAG	NCBI36
NG_021151.1:g.5408_5409insAG
NG_021151.2:g.5355_5356insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.7_8insAG MANE Select	ENSP00000368100.4:p.Arg3GlnfsTer6
ENST00000638452.2:c.-168-1953_-168-1952insAG	ENSP00000492349.2:n.-168-1953_-168-1952insAG
ENST00000638504.1:n.207-1953_207-1952insAG
ENST00000638568.2:c.-169+858_-169+859insAG	ENSP00000491158.2:n.-169+858_-169+859insAG
ENST00000639899.1:n.290-1953_290-1952insAG
ENST00000640655.2:c.-168-1953_-168-1952insAG	ENSP00000491596.2:n.-168-1953_-168-1952insAG
ENST00000651160.1:c.7_8insAG	ENSP00000498829.1:p.Arg3GlnfsTer6
ENST00000651541.1:c.-169+322_-169+323insAG	ENSP00000498795.1:n.-169+322_-169+323insAG
ENST00000651658.1:n.75_76insAG
ENST00000651723.1:c.7_8insAG	ENSP00000498237.1:p.Arg3GlnfsTer6
ENST00000652016.1:c.7_8insAG	ENSP00000498267.1:p.Arg3GlnfsTer6
ENST00000652485.1:c.7_8insAG	ENSP00000498973.1:p.Arg3GlnfsTer6
ENST00000378823.7:c.7_8insAG	ENSP00000368100.4:p.Arg3GlnfsTer6
ENST00000416135.5:c.-169+858_-169+859insAG	ENSP00000389515.1:n.-169+858_-169+859insAG
ENST00000423956.5:c.7_8insAG	ENSP00000390971.1:p.Arg3GlnfsTer6
ENST00000453394.5:c.7_8insAG	ENSP00000400049.1:p.Arg3GlnfsTer6
ENST00000533482.5:c.7_8insAG	ENSP00000431225.1:p.Arg3GlnfsTer6
NM_005732.3:c.7_8insAG	NP_005723.2:p.Arg3GlnfsTer6
NM_005732.4:c.7_8insAG MANE Select	NP_005723.2:p.Arg3GlnfsTer6