Canonical Allele Identifier: CA1583217031
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132557455_132557465delinsTAAGTCTTCAG , CM000667.2:g.132557455_132557465delinsTAAGTCTTCAG GRCh38
NC_000005.9:g.131893147_131893157delinsTAAGTCTTCAG , CM000667.1:g.131893147_131893157delinsTAAGTCTTCAG GRCh37
NC_000005.8:g.131921046_131921056delinsTAAGTCTTCAG NCBI36
NG_021151.1:g.5532_5542delinsTAAGTCTTCAG
NG_021151.2:g.5479_5489delinsTAAGTCTTCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.129+2_129+12delinsTAAGTCTTCAG MANE Select ENSP00000368100.4:n.129+2_129+12delinsTAA...
ENST00000638452.2:c.-168-1829_-168-1819delinsTAAGTCTTCAG ENSP00000492349.2:n.-168-1829_-168-1819de...
ENST00000638504.1:n.207-1829_207-1819delinsTAAGTCTTCAG
ENST00000638568.2:c.-169+982_-169+992delinsTAAGTCTTCAG ENSP00000491158.2:n.-169+982_-169+992deli...
ENST00000639899.1:n.290-1829_290-1819delinsTAAGTCTTCAG
ENST00000640655.2:c.-168-1829_-168-1819delinsTAAGTCTTCAG ENSP00000491596.2:n.-168-1829_-168-1819de...
ENST00000651160.1:c.129+2_129+12delinsTAAGTCTTCAG ENSP00000498829.1:n.129+2_129+12delinsTAA...
ENST00000651541.1:c.-169+446_-169+456delinsTAAGTCTTCAG ENSP00000498795.1:n.-169+446_-169+456deli...
ENST00000651658.1:n.197+2_197+12delinsTAAGTCTTCAG
ENST00000651723.1:c.131_141delinsTAAGTCTTCAG ENSP00000498237.1:p.Val44=
ENST00000652016.1:c.129+2_129+12delinsTAAGTCTTCAG ENSP00000498267.1:n.129+2_129+12delinsTAA...
ENST00000652485.1:c.129+2_129+12delinsTAAGTCTTCAG ENSP00000498973.1:n.129+2_129+12delinsTAA...
ENST00000378823.7:c.129+2_129+12delinsTAAGTCTTCAG ENSP00000368100.4:n.129+2_129+12delinsTAA...
ENST00000416135.5:c.-169+982_-169+992delinsTAAGTCTTCAG ENSP00000389515.1:n.-169+982_-169+992deli...
ENST00000423956.5:c.129+2_129+12delinsTAAGTCTTCAG ENSP00000390971.1:n.129+2_129+12delinsTAA...
ENST00000453394.5:c.129+2_129+12delinsTAAGTCTTCAG ENSP00000400049.1:n.129+2_129+12delinsTAA...
ENST00000533482.5:c.129+2_129+12delinsTAAGTCTTCAG ENSP00000431225.1:n.129+2_129+12delinsTAA...
NM_005732.3:c.129+2_129+12delinsTAAGTCTTCAG NP_005723.2:n.129+2_129+12delinsTAAGTCTTC...
NM_005732.4:c.129+2_129+12delinsTAAGTCTTCAG MANE Select NP_005723.2:n.129+2_129+12delinsTAAGTCTTC...