Canonical Allele Identifier: CA563057565

Gene: RAD50

Linked Data

• gnomAD v2: 5-131930714-T-TG
• MyVariant Identifiers: chr5:g.131930714_131930715insG (hg19) ; chr5:g.132595022_132595023insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595023dup , CM000667.2:g.132595023dup	GRCh38
NC_000005.9:g.131930715dup , CM000667.1:g.131930715dup	GRCh37
NC_000005.8:g.131958614dup	NCBI36
NG_021151.1:g.43100dup
NG_021151.2:g.43047dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1948dup MANE Select	ENSP00000368100.4:p.Glu650GlyfsTer?
ENST00000638452.2:c.1651dup	ENSP00000492349.2:p.Glu551GlyfsTer?
ENST00000638504.1:n.1480-81dup
ENST00000638568.2:c.1651dup	ENSP00000491158.2:p.Glu551GlyfsTer?
ENST00000639899.1:n.2467dup
ENST00000640655.2:c.1651dup	ENSP00000491596.2:p.Glu551GlyfsTer?
ENST00000651160.1:c.*16-81dup	ENSP00000498829.1:n.*16-81dup
ENST00000651658.1:n.2491dup
ENST00000651723.1:c.*2031dup	ENSP00000498237.1:n.*2031dup
ENST00000652016.1:c.*89-81dup	ENSP00000498267.1:n.*89-81dup
ENST00000652485.1:c.1981dup	ENSP00000498973.1:p.Glu661GlyfsTer?
ENST00000378823.7:c.1948dup	ENSP00000368100.4:p.Glu650GlyfsTer?
ENST00000423956.5:c.*134dup	ENSP00000390971.1:n.*134dup
ENST00000453394.5:c.1765dup	ENSP00000400049.1:p.Glu589GlyfsTer?
ENST00000533482.5:c.*1574dup	ENSP00000431225.1:n.*1574dup
NM_005732.3:c.1948dup	NP_005723.2:p.Glu650GlyfsTer?
NM_005732.4:c.1948dup MANE Select	NP_005723.2:p.Glu650GlyfsTer?