Canonical Allele Identifier: CA3405296

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1564692
• ClinVar RCV Id: RCV002212810
• dbSNP Id: rs768995615
• ExAC: 5:131930753 ATAT / A
• gnomAD v2: 5-131930753-ATAT-A
• gnomAD v4: 5-132595061-ATAT-A
• MyVariant Identifiers: chr5:g.131930754_131930756del (hg19) ; chr5:g.132595062_132595064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595065_132595067del , CM000667.2:g.132595065_132595067del	GRCh38
NC_000005.9:g.131930757_131930759del , CM000667.1:g.131930757_131930759del	GRCh37
NC_000005.8:g.131958656_131958658del	NCBI36
NG_021151.1:g.43142_43144del
NG_021151.2:g.43089_43091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1969+21_1969+23del MANE Select	ENSP00000368100.4:n.1969+21_1969+23del
ENST00000638452.2:c.1672+21_1672+23del	ENSP00000492349.2:n.1672+21_1672+23del
ENST00000638504.1:n.1480-39_1480-37del
ENST00000638568.2:c.1672+21_1672+23del	ENSP00000491158.2:n.1672+21_1672+23del
ENST00000639899.1:n.2488+21_2488+23del
ENST00000640655.2:c.1672+21_1672+23del	ENSP00000491596.2:n.1672+21_1672+23del
ENST00000651160.1:c.*16-39_*16-37del	ENSP00000498829.1:n.*16-39_*16-37del
ENST00000651658.1:n.2512+21_2512+23del
ENST00000651723.1:c.*2052+21_*2052+23del	ENSP00000498237.1:n.*2052+21_*2052+23del
ENST00000652016.1:c.*89-39_*89-37del	ENSP00000498267.1:n.*89-39_*89-37del
ENST00000652485.1:c.2002+21_2002+23del	ENSP00000498973.1:n.2002+21_2002+23del
ENST00000378823.7:c.1969+21_1969+23del	ENSP00000368100.4:n.1969+21_1969+23del
ENST00000423956.5:c.*155+21_*155+23del	ENSP00000390971.1:n.*155+21_*155+23del
ENST00000453394.5:c.1786+21_1786+23del	ENSP00000400049.1:n.1786+21_1786+23del
ENST00000533482.5:c.*1595+21_*1595+23del	ENSP00000431225.1:n.*1595+21_*1595+23del
NM_005732.3:c.1969+21_1969+23del	NP_005723.2:n.1969+21_1969+23del
NM_005732.4:c.1969+21_1969+23del MANE Select	NP_005723.2:n.1969+21_1969+23del