Canonical Allele Identifier: CA127234630

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs992352433
• gnomAD v2: 5-131973201-ACT-A
• gnomAD v3: 5-132637509-ACT-A
• gnomAD v4: 5-132637509-ACT-A
• MyVariant Identifiers: chr5:g.131973202_131973203del (hg19) ; chr5:g.132637510_132637511del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132637512_132637513del , CM000667.2:g.132637512_132637513del	GRCh38
NC_000005.9:g.131973204_131973205del , CM000667.1:g.131973204_131973205del	GRCh37
NC_000005.8:g.132001103_132001104del	NCBI36
NG_021151.1:g.85589_85590del
NG_021151.2:g.85536_85537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3475+312_3475+313del (RAD50) MANE Select	ENSP00000368100.4:n.3475+312_3475+313del
ENST00000638452.2:c.3178+312_3178+313del	ENSP00000492349.2:n.3178+312_3178+313del
ENST00000638504.1:n.3083+312_3083+313del
ENST00000638568.2:c.3178+312_3178+313del	ENSP00000491158.2:n.3178+312_3178+313del
ENST00000639899.1:n.3994+312_3994+313del
ENST00000640655.2:c.3178+312_3178+313del	ENSP00000491596.2:n.3178+312_3178+313del
ENST00000651249.1:c.311+312_311+313del (RAD50)
ENST00000378823.7:c.3475+312_3475+313del (RAD50)	ENSP00000368100.4:n.3475+312_3475+313del
ENST00000455677.1:c.110+312_110+313del (RAD50)
ENST00000533482.5:c.*3101+312_*3101+313del (RAD50)	ENSP00000431225.1:n.*3101+312_*3101+313del
NM_005732.3:c.3475+312_3475+313del (RAD50)	NP_005723.2:n.3475+312_3475+313del
NR_132124.1:n.153+647_153+648del (TH2LCRR)
NM_005732.4:c.3475+312_3475+313del (RAD50) MANE Select	NP_005723.2:n.3475+312_3475+313del