Canonical Allele Identifier: CA1583237742
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs1750634507

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132588437_132588438del , CM000667.2:g.132588437_132588438del GRCh38
NC_000005.9:g.131924129_131924130del , CM000667.1:g.131924129_131924130del GRCh37
NC_000005.8:g.131952028_131952029del NCBI36
NG_021151.1:g.36514_36515del
NG_021151.2:g.36461_36462del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1052-250_1052-249del MANE Select ENSP00000368100.4:n.1052-250_1052-249del
ENST00000638452.2:c.755-250_755-249del ENSP00000492349.2:n.755-250_755-249del
ENST00000638504.1:n.738-250_738-249del
ENST00000638568.2:c.755-250_755-249del ENSP00000491158.2:n.755-250_755-249del
ENST00000639899.1:n.1571-250_1571-249del
ENST00000640655.2:c.755-250_755-249del ENSP00000491596.2:n.755-250_755-249del
ENST00000651160.1:c.1052-250_1052-249del ENSP00000498829.1:n.1052-250_1052-249del
ENST00000651541.1:c.755-250_755-249del ENSP00000498795.1:n.755-250_755-249del
ENST00000651658.1:n.1479-250_1479-249del
ENST00000651723.1:c.*1135-250_*1135-249del ENSP00000498237.1:n.*1135-250_*1135-249del
ENST00000652016.1:c.1052-250_1052-249del ENSP00000498267.1:n.1052-250_1052-249del
ENST00000652485.1:c.1052-250_1052-249del ENSP00000498973.1:n.1052-250_1052-249del
ENST00000378823.7:c.1052-250_1052-249del ENSP00000368100.4:n.1052-250_1052-249del
ENST00000423956.5:c.1052-250_1052-249del ENSP00000390971.1:n.1052-250_1052-249del
ENST00000453394.5:c.1052-250_1052-249del ENSP00000400049.1:n.1052-250_1052-249del
ENST00000487596.1:n.618-250_618-249del
ENST00000533482.5:c.*678-250_*678-249del ENSP00000431225.1:n.*678-250_*678-249del
NM_005732.3:c.1052-250_1052-249del NP_005723.2:n.1052-250_1052-249del
NM_005732.4:c.1052-250_1052-249del MANE Select NP_005723.2:n.1052-250_1052-249del