Canonical Allele Identifier: CA1081661394

Gene: RAD50 TH2LCRR

Linked Data

• gnomAD v3: 5-132637512-C-CTTTTTTTTTTTTTTTTT
• gnomAD v4: 5-132637512-C-CTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132637522_132637523insTTTTTTTTTTTTTTTTT , CM000667.2:g.132637522_132637523insTTTTTTTTTTTTTTTTT	GRCh38
NC_000005.9:g.131973214_131973215insTTTTTTTTTTTTTTTTT , CM000667.1:g.131973214_131973215insTTTTTTTTTTTTTTTTT	GRCh37
NC_000005.8:g.132001113_132001114insTTTTTTTTTTTTTTTTT	NCBI36
NG_021151.1:g.85599_85600insTTTTTTTTTTTTTTTTT
NG_021151.2:g.85546_85547insTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3475+322_3475+323insTTTTTTTTTTTTTTTTT (RAD50) MANE Select	ENSP00000368100.4:n.3475+322_3475+323insTTTTTTTTTTTTTTTTT
ENST00000638452.2:c.3178+322_3178+323insTTTTTTTTTTTTTTTTT	ENSP00000492349.2:n.3178+322_3178+323insTTTTTTTTTTTTTTTTT
ENST00000638504.1:n.3083+322_3083+323insTTTTTTTTTTTTTTTTT
ENST00000638568.2:c.3178+322_3178+323insTTTTTTTTTTTTTTTTT	ENSP00000491158.2:n.3178+322_3178+323insTTTTTTTTTTTTTTTTT
ENST00000639899.1:n.3994+322_3994+323insTTTTTTTTTTTTTTTTT
ENST00000640655.2:c.3178+322_3178+323insTTTTTTTTTTTTTTTTT	ENSP00000491596.2:n.3178+322_3178+323insTTTTTTTTTTTTTTTTT
ENST00000651249.1:c.311+322_311+323insTTTTTTTTTTTTTTTTT (RAD50)
ENST00000378823.7:c.3475+322_3475+323insTTTTTTTTTTTTTTTTT (RAD50)	ENSP00000368100.4:n.3475+322_3475+323insTTTTTTTTTTTTTTTTT
ENST00000455677.1:c.110+322_110+323insTTTTTTTTTTTTTTTTT (RAD50)
ENST00000533482.5:c.*3101+322_*3101+323insTTTTTTTTTTTTTTTTT (RAD50)	ENSP00000431225.1:n.*3101+322_*3101+323insTTTTTTTTTTTTTTTTT
NM_005732.3:c.3475+322_3475+323insTTTTTTTTTTTTTTTTT (RAD50)	NP_005723.2:n.3475+322_3475+323insTTTTTTTTTTTTTTTTT
NR_132124.1:n.153+645_153+646insAAAAAAAAAAAAAAAAA (TH2LCRR)
NM_005732.4:c.3475+322_3475+323insTTTTTTTTTTTTTTTTT (RAD50) MANE Select	NP_005723.2:n.3475+322_3475+323insTTTTTTTTTTTTTTTTT