Canonical Allele Identifier: CA1081660119

Gene: RAD50 TH2LCRR

Linked Data

• gnomAD v3: 5-132634357-TGCC-T
• gnomAD v4: 5-132634357-TGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132634358_132634360del , CM000667.2:g.132634358_132634360del	GRCh38
NC_000005.9:g.131970050_131970052del , CM000667.1:g.131970050_131970052del	GRCh37
NC_000005.8:g.131997949_131997951del	NCBI36
NG_021151.1:g.82435_82437del
NG_021151.2:g.82382_82384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3390-2757_3390-2755del (RAD50) MANE Select	ENSP00000368100.4:n.3390-2757_3390-2755del
ENST00000638452.2:c.3093-2757_3093-2755del	ENSP00000492349.2:n.3093-2757_3093-2755del
ENST00000638504.1:n.2998-2757_2998-2755del
ENST00000638568.2:c.3093-2757_3093-2755del	ENSP00000491158.2:n.3093-2757_3093-2755del
ENST00000639899.1:n.3909-2757_3909-2755del
ENST00000640655.2:c.3093-2757_3093-2755del	ENSP00000491596.2:n.3093-2757_3093-2755del
ENST00000651249.1:c.226-2757_226-2755del (RAD50)
ENST00000378823.7:c.3390-2757_3390-2755del (RAD50)	ENSP00000368100.4:n.3390-2757_3390-2755del
ENST00000455677.1:c.25-2757_25-2755del (RAD50)
ENST00000533482.5:c.*3016-2757_*3016-2755del (RAD50)	ENSP00000431225.1:n.*3016-2757_*3016-2755del
NM_005732.3:c.3390-2757_3390-2755del (RAD50)	NP_005723.2:n.3390-2757_3390-2755del
NR_132124.1:n.154-3469_154-3467del (TH2LCRR)
NM_005732.4:c.3390-2757_3390-2755del (RAD50) MANE Select	NP_005723.2:n.3390-2757_3390-2755del