Canonical Allele Identifier: CA2675216509

Gene: RAD50

Linked Data

• gnomAD v4: 5-132579953-C-CAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579955_132579957dup , CM000667.2:g.132579955_132579957dup	GRCh38
NC_000005.9:g.131915647_131915649dup , CM000667.1:g.131915647_131915649dup	GRCh37
NC_000005.8:g.131943546_131943548dup	NCBI36
NG_021151.1:g.28032_28034dup
NG_021151.2:g.27979_27981dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.645_647dup MANE Select	ENSP00000368100.4:p.Tyr216Ter
ENST00000638452.2:c.348_350dup	ENSP00000492349.2:p.Tyr117Ter
ENST00000638504.1:n.442+4027_442+4029dup
ENST00000638568.2:c.348_350dup	ENSP00000491158.2:p.Tyr117Ter
ENST00000639899.1:n.1164_1166dup
ENST00000640655.2:c.348_350dup	ENSP00000491596.2:p.Tyr117Ter
ENST00000651160.1:c.645_647dup	ENSP00000498829.1:p.Tyr216Ter
ENST00000651541.1:c.348_350dup	ENSP00000498795.1:p.Tyr117Ter
ENST00000651658.1:n.1072_1074dup
ENST00000651723.1:c.*728_*730dup	ENSP00000498237.1:n.*728_*730dup
ENST00000652016.1:c.645_647dup	ENSP00000498267.1:p.Tyr216Ter
ENST00000652485.1:c.645_647dup	ENSP00000498973.1:p.Tyr216Ter
ENST00000378823.7:c.645_647dup	ENSP00000368100.4:p.Tyr216Ter
ENST00000423956.5:c.645_647dup	ENSP00000390971.1:p.Tyr216Ter
ENST00000453394.5:c.645_647dup	ENSP00000400049.1:p.Tyr216Ter
ENST00000487596.1:n.211_213dup
ENST00000533482.5:c.*271_*273dup	ENSP00000431225.1:n.*271_*273dup
NM_005732.3:c.645_647dup	NP_005723.2:p.Tyr216Ter
NM_005732.4:c.645_647dup MANE Select	NP_005723.2:p.Tyr216Ter