Canonical Allele Identifier: CA2675219157

Gene: RAD50

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595767_132595768dup , CM000667.2:g.132595767_132595768dup	GRCh38
NC_000005.9:g.131931459_131931460dup , CM000667.1:g.131931459_131931460dup	GRCh37
NC_000005.8:g.131959358_131959359dup	NCBI36
NG_021151.1:g.43844_43845dup
NG_021151.2:g.43791_43792dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2164_2165dup MANE Select	ENSP00000368100.4:p.Glu723ArgfsTer14
ENST00000638452.2:c.1867_1868dup	ENSP00000492349.2:p.Glu624ArgfsTer14
ENST00000638504.1:n.1772_1773dup
ENST00000638568.2:c.1867_1868dup	ENSP00000491158.2:p.Glu624ArgfsTer14
ENST00000639899.1:n.2683_2684dup
ENST00000640655.2:c.1867_1868dup	ENSP00000491596.2:p.Glu624ArgfsTer14
ENST00000651160.1:c.*308_*309dup	ENSP00000498829.1:n.*308_*309dup
ENST00000651658.1:n.2707_2708dup
ENST00000651723.1:c.*2247_*2248dup	ENSP00000498237.1:n.*2247_*2248dup
ENST00000652016.1:c.*381_*382dup	ENSP00000498267.1:n.*381_*382dup
ENST00000652485.1:c.2197_2198dup	ENSP00000498973.1:p.Glu734ArgfsTer14
ENST00000378823.7:c.2164_2165dup	ENSP00000368100.4:p.Glu723ArgfsTer14
ENST00000423956.5:c.*350_*351dup	ENSP00000390971.1:n.*350_*351dup
ENST00000496204.1:n.247_248dup
ENST00000533482.5:c.*1790_*1791dup	ENSP00000431225.1:n.*1790_*1791dup
NM_005732.3:c.2164_2165dup	NP_005723.2:p.Glu723ArgfsTer14
NM_005732.4:c.2164_2165dup MANE Select	NP_005723.2:p.Glu723ArgfsTer14