Canonical Allele Identifier: CA446362170

Gene: RAD50

Linked Data

• dbSNP Id: rs1391584285
• gnomAD v2: 5-131930713-T-TA
• gnomAD v4: 5-132595021-T-TA
• MyVariant Identifiers: chr5:g.131930713_131930714insA (hg19) ; chr5:g.132595021_132595022insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595021_132595022insA , CM000667.2:g.132595021_132595022insA	GRCh38
NC_000005.9:g.131930713_131930714insA , CM000667.1:g.131930713_131930714insA	GRCh37
NC_000005.8:g.131958612_131958613insA	NCBI36
NG_021151.1:g.43098_43099insA
NG_021151.2:g.43045_43046insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1946_1947insA MANE Select	ENSP00000368100.4:p.Glu650Ter
ENST00000638452.2:c.1649_1650insA	ENSP00000492349.2:p.Glu551Ter
ENST00000638504.1:n.1480-83_1480-82insA
ENST00000638568.2:c.1649_1650insA	ENSP00000491158.2:p.Glu551Ter
ENST00000639899.1:n.2465_2466insA
ENST00000640655.2:c.1649_1650insA	ENSP00000491596.2:p.Glu551Ter
ENST00000651160.1:c.*16-83_*16-82insA	ENSP00000498829.1:n.*16-83_*16-82insA
ENST00000651658.1:n.2489_2490insA
ENST00000651723.1:c.*2029_*2030insA	ENSP00000498237.1:n.*2029_*2030insA
ENST00000652016.1:c.*89-83_*89-82insA	ENSP00000498267.1:n.*89-83_*89-82insA
ENST00000652485.1:c.1979_1980insA	ENSP00000498973.1:p.Glu661Ter
ENST00000378823.7:c.1946_1947insA	ENSP00000368100.4:p.Glu650Ter
ENST00000423956.5:c.*132_*133insA	ENSP00000390971.1:n.*132_*133insA
ENST00000453394.5:c.1763_1764insA	ENSP00000400049.1:p.Glu589Ter
ENST00000533482.5:c.*1572_*1573insA	ENSP00000431225.1:n.*1572_*1573insA
NM_005732.3:c.1946_1947insA	NP_005723.2:p.Glu650Ter
NM_005732.4:c.1946_1947insA MANE Select	NP_005723.2:p.Glu650Ter