Canonical Allele Identifier: CA562768221

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs1263785391
• gnomAD v2: 5-131970943-T-TCTAA
• gnomAD v3: 5-132635251-T-TCTAA
• gnomAD v4: 5-132635251-T-TCTAA
• MyVariant Identifiers: chr5:g.131970943_131970944insCTAA (hg19) ; chr5:g.132635251_132635252insCTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132635251_132635252insCTAA , CM000667.2:g.132635251_132635252insCTAA	GRCh38
NC_000005.9:g.131970943_131970944insCTAA , CM000667.1:g.131970943_131970944insCTAA	GRCh37
NC_000005.8:g.131998842_131998843insCTAA	NCBI36
NG_021151.1:g.83328_83329insCTAA
NG_021151.2:g.83275_83276insCTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3390-1864_3390-1863insCTAA (RAD50) MANE Select	ENSP00000368100.4:n.3390-1864_3390-1863insCTAA
ENST00000638452.2:c.3093-1864_3093-1863insCTAA	ENSP00000492349.2:n.3093-1864_3093-1863insCTAA
ENST00000638504.1:n.2998-1864_2998-1863insCTAA
ENST00000638568.2:c.3093-1864_3093-1863insCTAA	ENSP00000491158.2:n.3093-1864_3093-1863insCTAA
ENST00000639899.1:n.3909-1864_3909-1863insCTAA
ENST00000640655.2:c.3093-1864_3093-1863insCTAA	ENSP00000491596.2:n.3093-1864_3093-1863insCTAA
ENST00000651249.1:c.226-1864_226-1863insCTAA (RAD50)
ENST00000378823.7:c.3390-1864_3390-1863insCTAA (RAD50)	ENSP00000368100.4:n.3390-1864_3390-1863insCTAA
ENST00000455677.1:c.25-1864_25-1863insCTAA (RAD50)
ENST00000533482.5:c.*3016-1864_*3016-1863insCTAA (RAD50)	ENSP00000431225.1:n.*3016-1864_*3016-1863insCTAA
NM_005732.3:c.3390-1864_3390-1863insCTAA (RAD50)	NP_005723.2:n.3390-1864_3390-1863insCTAA
NR_132124.1:n.153+2906_153+2907insTTAG (TH2LCRR)
NM_005732.4:c.3390-1864_3390-1863insCTAA (RAD50) MANE Select	NP_005723.2:n.3390-1864_3390-1863insCTAA