Canonical Allele Identifier: CA804019083

Gene: RAD50

Linked Data

• dbSNP Id: rs1371126710
• gnomAD v3: 5-132618516-T-TTACA
• gnomAD v4: 5-132618516-T-TTACA
• MyVariant Identifiers: chr5:g.131954208_131954209insTACA (hg19) ; chr5:g.132618516_132618517insTACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618517_132618520dup , CM000667.2:g.132618517_132618520dup	GRCh38
NC_000005.9:g.131954209_131954212dup , CM000667.1:g.131954209_131954212dup	GRCh37
NC_000005.8:g.131982108_131982111dup	NCBI36
NG_021151.1:g.66594_66597dup
NG_021151.2:g.66541_66544dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3389+223_3389+226dup MANE Select	ENSP00000368100.4:n.3389+223_3389+226dup
ENST00000638452.2:c.3092+223_3092+226dup	ENSP00000492349.2:n.3092+223_3092+226dup
ENST00000638504.1:n.2997+223_2997+226dup
ENST00000638568.2:c.3092+223_3092+226dup	ENSP00000491158.2:n.3092+223_3092+226dup
ENST00000639899.1:n.3908+223_3908+226dup
ENST00000640655.2:c.3092+223_3092+226dup	ENSP00000491596.2:n.3092+223_3092+226dup
ENST00000651249.1:c.225+223_225+226dup
ENST00000378823.7:c.3389+223_3389+226dup	ENSP00000368100.4:n.3389+223_3389+226dup
ENST00000455677.1:c.24+223_24+226dup
ENST00000533482.5:c.*3015+223_*3015+226dup	ENSP00000431225.1:n.*3015+223_*3015+226dup
NM_005732.3:c.3389+223_3389+226dup	NP_005723.2:n.3389+223_3389+226dup
NM_005732.4:c.3389+223_3389+226dup MANE Select	NP_005723.2:n.3389+223_3389+226dup