Canonical Allele Identifier: CA446364979

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131953951_131953952insTGTAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618259_132618260insTGTAA , CM000667.2:g.132618259_132618260insTGTAA	GRCh38
NC_000005.9:g.131953951_131953952insTGTAA , CM000667.1:g.131953951_131953952insTGTAA	GRCh37
NC_000005.8:g.131981850_131981851insTGTAA	NCBI36
NG_021151.1:g.66336_66337insTGTAA
NG_021151.2:g.66283_66284insTGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3354_3355insTGTAA MANE Select	ENSP00000368100.4:p.Lys1119CysfsTer16
ENST00000638452.2:c.3057_3058insTGTAA	ENSP00000492349.2:p.Lys1020CysfsTer16
ENST00000638504.1:n.2962_2963insTGTAA
ENST00000638568.2:c.3057_3058insTGTAA	ENSP00000491158.2:p.Lys1020CysfsTer16
ENST00000639899.1:n.3873_3874insTGTAA
ENST00000640655.2:c.3057_3058insTGTAA	ENSP00000491596.2:p.Lys1020CysfsTer16
ENST00000651249.1:c.190_191insTGTAA
ENST00000378823.7:c.3354_3355insTGTAA	ENSP00000368100.4:p.Lys1119CysfsTer16
ENST00000533482.5:c.*2980_*2981insTGTAA	ENSP00000431225.1:n.*2980_*2981insTGTAA
NM_005732.3:c.3354_3355insTGTAA	NP_005723.2:p.Lys1119CysfsTer16
NM_005732.4:c.3354_3355insTGTAA MANE Select	NP_005723.2:p.Lys1119CysfsTer16