Canonical Allele Identifier: CA1583251515
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132635119_132635125delinsCAATTTT , CM000667.2:g.132635119_132635125delinsCAATTTT GRCh38
NC_000005.9:g.131970811_131970817delinsCAATTTT , CM000667.1:g.131970811_131970817delinsCAATTTT GRCh37
NC_000005.8:g.131998710_131998716delinsCAATTTT NCBI36
NG_021151.1:g.83196_83202delinsCAATTTT
NG_021151.2:g.83143_83149delinsCAATTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3390-1996_3390-1990delinsCAATTTT (RAD50) MANE Select ENSP00000368100.4:n.3390-1996_3390-1990delinsCAATTTT
ENST00000638452.2:c.3093-1996_3093-1990delinsCAATTTT ENSP00000492349.2:n.3093-1996_3093-1990delinsCAATTTT
ENST00000638504.1:n.2998-1996_2998-1990delinsCAATTTT
ENST00000638568.2:c.3093-1996_3093-1990delinsCAATTTT ENSP00000491158.2:n.3093-1996_3093-1990delinsCAATTTT
ENST00000639899.1:n.3909-1996_3909-1990delinsCAATTTT
ENST00000640655.2:c.3093-1996_3093-1990delinsCAATTTT ENSP00000491596.2:n.3093-1996_3093-1990delinsCAATTTT
ENST00000651249.1:c.226-1996_226-1990delinsCAATTTT (RAD50)
ENST00000378823.7:c.3390-1996_3390-1990delinsCAATTTT (RAD50) ENSP00000368100.4:n.3390-1996_3390-1990delinsCAATTTT
ENST00000455677.1:c.25-1996_25-1990delinsCAATTTT (RAD50)
ENST00000533482.5:c.*3016-1996_*3016-1990delinsCAATTTT (RAD50) ENSP00000431225.1:n.*3016-1996_*3016-1990delinsCAATTTT
NM_005732.3:c.3390-1996_3390-1990delinsCAATTTT (RAD50) NP_005723.2:n.3390-1996_3390-1990delinsCAATTTT
NR_132124.1:n.153+3033_153+3039delinsAAAATTG (TH2LCRR)
NM_005732.4:c.3390-1996_3390-1990delinsCAATTTT (RAD50) MANE Select NP_005723.2:n.3390-1996_3390-1990delinsCAATTTT