Canonical Allele Identifier: CA563057568

Gene: RAD50

Linked Data

• dbSNP Id: rs1271212270
• gnomAD v2: 5-131930746-CTACTT-C
• gnomAD v4: 5-132595054-CTACTT-C
• MyVariant Identifiers: chr5:g.131930747_131930751del (hg19) ; chr5:g.132595055_132595059del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595057_132595061del , CM000667.2:g.132595057_132595061del	GRCh38
NC_000005.9:g.131930749_131930753del , CM000667.1:g.131930749_131930753del	GRCh37
NC_000005.8:g.131958648_131958652del	NCBI36
NG_021151.1:g.43134_43138del
NG_021151.2:g.43081_43085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1969+13_1969+17del MANE Select	ENSP00000368100.4:n.1969+13_1969+17del
ENST00000638452.2:c.1672+13_1672+17del	ENSP00000492349.2:n.1672+13_1672+17del
ENST00000638504.1:n.1480-47_1480-43del
ENST00000638568.2:c.1672+13_1672+17del	ENSP00000491158.2:n.1672+13_1672+17del
ENST00000639899.1:n.2488+13_2488+17del
ENST00000640655.2:c.1672+13_1672+17del	ENSP00000491596.2:n.1672+13_1672+17del
ENST00000651160.1:c.*16-47_*16-43del	ENSP00000498829.1:n.*16-47_*16-43del
ENST00000651658.1:n.2512+13_2512+17del
ENST00000651723.1:c.*2052+13_*2052+17del	ENSP00000498237.1:n.*2052+13_*2052+17del
ENST00000652016.1:c.*89-47_*89-43del	ENSP00000498267.1:n.*89-47_*89-43del
ENST00000652485.1:c.2002+13_2002+17del	ENSP00000498973.1:n.2002+13_2002+17del
ENST00000378823.7:c.1969+13_1969+17del	ENSP00000368100.4:n.1969+13_1969+17del
ENST00000423956.5:c.*155+13_*155+17del	ENSP00000390971.1:n.*155+13_*155+17del
ENST00000453394.5:c.1786+13_1786+17del	ENSP00000400049.1:n.1786+13_1786+17del
ENST00000533482.5:c.*1595+13_*1595+17del	ENSP00000431225.1:n.*1595+13_*1595+17del
NM_005732.3:c.1969+13_1969+17del	NP_005723.2:n.1969+13_1969+17del
NM_005732.4:c.1969+13_1969+17del MANE Select	NP_005723.2:n.1969+13_1969+17del