Canonical Allele Identifier: CA916082758

Gene: RAD50

Linked Data

• ClinVar Variation Id: 838367
• ClinVar RCV Id: RCV001039902
• dbSNP Id: rs1750019704

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557356_132557357delinsAA , CM000667.2:g.132557356_132557357delinsAA	GRCh38
NC_000005.9:g.131893048_131893049delinsAA , CM000667.1:g.131893048_131893049delinsAA	GRCh37
NC_000005.8:g.131920947_131920948delinsAA	NCBI36
NG_021151.1:g.5433_5434delinsAA
NG_021151.2:g.5380_5381delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.32_33delinsAA MANE Select	ENSP00000368100.4:p.Gly11Glu
ENST00000638452.2:c.-168-1928_-168-1927delinsAA	ENSP00000492349.2:n.-168-1928_-168-1927de...
ENST00000638504.1:n.207-1928_207-1927delinsAA
ENST00000638568.2:c.-169+883_-169+884delinsAA	ENSP00000491158.2:n.-169+883_-169+884deli...
ENST00000639899.1:n.290-1928_290-1927delinsAA
ENST00000640655.2:c.-168-1928_-168-1927delinsAA	ENSP00000491596.2:n.-168-1928_-168-1927de...
ENST00000651160.1:c.32_33delinsAA	ENSP00000498829.1:p.Gly11Glu
ENST00000651541.1:c.-169+347_-169+348delinsAA	ENSP00000498795.1:n.-169+347_-169+348deli...
ENST00000651658.1:n.100_101delinsAA
ENST00000651723.1:c.32_33delinsAA	ENSP00000498237.1:p.Gly11Glu
ENST00000652016.1:c.32_33delinsAA	ENSP00000498267.1:p.Gly11Glu
ENST00000652485.1:c.32_33delinsAA	ENSP00000498973.1:p.Gly11Glu
ENST00000378823.7:c.32_33delinsAA	ENSP00000368100.4:p.Gly11Glu
ENST00000416135.5:c.-169+883_-169+884delinsAA	ENSP00000389515.1:n.-169+883_-169+884deli...
ENST00000423956.5:c.32_33delinsAA	ENSP00000390971.1:p.Gly11Glu
ENST00000453394.5:c.32_33delinsAA	ENSP00000400049.1:p.Gly11Glu
ENST00000533482.5:c.32_33delinsAA	ENSP00000431225.1:p.Gly11Glu
NM_005732.3:c.32_33delinsAA	NP_005723.2:p.Gly11Glu
NM_005732.4:c.32_33delinsAA MANE Select	NP_005723.2:p.Gly11Glu