Canonical Allele Identifier: CA127234640

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs11420290
• gnomAD v2: 5-131973204-C-CT
• gnomAD v3: 5-132637512-C-CT
• gnomAD v4: 5-132637512-C-CT
• MyVariant Identifiers: chr5:g.131973205_131973206insT (hg19) ; chr5:g.131973204_131973205insT (hg19) ; chr5:g.132637513_132637514insT (hg38) ; chr5:g.132637512_132637513insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132637522dup , CM000667.2:g.132637522dup	GRCh38
NC_000005.9:g.131973214dup , CM000667.1:g.131973214dup	GRCh37
NC_000005.8:g.132001113dup	NCBI36
NG_021151.1:g.85599dup
NG_021151.2:g.85546dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3475+322dup (RAD50) MANE Select	ENSP00000368100.4:n.3475+322dup
ENST00000638452.2:c.3178+322dup	ENSP00000492349.2:n.3178+322dup
ENST00000638504.1:n.3083+322dup
ENST00000638568.2:c.3178+322dup	ENSP00000491158.2:n.3178+322dup
ENST00000639899.1:n.3994+322dup
ENST00000640655.2:c.3178+322dup	ENSP00000491596.2:n.3178+322dup
ENST00000651249.1:c.311+322dup (RAD50)
ENST00000378823.7:c.3475+322dup (RAD50)	ENSP00000368100.4:n.3475+322dup
ENST00000455677.1:c.110+322dup (RAD50)
ENST00000533482.5:c.*3101+322dup (RAD50)	ENSP00000431225.1:n.*3101+322dup
NM_005732.3:c.3475+322dup (RAD50)	NP_005723.2:n.3475+322dup
NR_132124.1:n.153+645dup (TH2LCRR)
NM_005732.4:c.3475+322dup (RAD50) MANE Select	NP_005723.2:n.3475+322dup