Canonical Allele Identifier: CA1081660052

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs1751530376
• gnomAD v3: 5-132634199-G-GACTC
• gnomAD v4: 5-132634199-G-GACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132634200_132634203dup , CM000667.2:g.132634200_132634203dup	GRCh38
NC_000005.9:g.131969892_131969895dup , CM000667.1:g.131969892_131969895dup	GRCh37
NC_000005.8:g.131997791_131997794dup	NCBI36
NG_021151.1:g.82277_82280dup
NG_021151.2:g.82224_82227dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3390-2915_3390-2912dup (RAD50) MANE Select	ENSP00000368100.4:n.3390-2915_3390-2912du...
ENST00000638452.2:c.3093-2915_3093-2912dup	ENSP00000492349.2:n.3093-2915_3093-2912du...
ENST00000638504.1:n.2998-2915_2998-2912dup
ENST00000638568.2:c.3093-2915_3093-2912dup	ENSP00000491158.2:n.3093-2915_3093-2912du...
ENST00000639899.1:n.3909-2915_3909-2912dup
ENST00000640655.2:c.3093-2915_3093-2912dup	ENSP00000491596.2:n.3093-2915_3093-2912du...
ENST00000651249.1:c.226-2915_226-2912dup (RAD50)
ENST00000378823.7:c.3390-2915_3390-2912dup (RAD50)	ENSP00000368100.4:n.3390-2915_3390-2912du...
ENST00000455677.1:c.25-2915_25-2912dup (RAD50)
ENST00000533482.5:c.*3016-2915_*3016-2912dup (RAD50)	ENSP00000431225.1:n.*3016-2915_*3016-2912...
NM_005732.3:c.3390-2915_3390-2912dup (RAD50)	NP_005723.2:n.3390-2915_3390-2912dup
NR_132124.1:n.154-3312_154-3309dup (TH2LCRR)
NM_005732.4:c.3390-2915_3390-2912dup (RAD50) MANE Select	NP_005723.2:n.3390-2915_3390-2912dup