Canonical Allele Identifier: CA2841655177

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604120_132604121insTCTTTCAAC , CM000667.2:g.132604120_132604121insTCTTTCAAC	GRCh38
NC_000005.9:g.131939812_131939813insTCTTTCAAC , CM000667.1:g.131939812_131939813insTCTTTCAAC	GRCh37
NC_000005.8:g.131967711_131967712insTCTTTCAAC	NCBI36
NG_021151.1:g.52197_52198insTCTTTCAAC
NG_021151.2:g.52144_52145insTCTTTCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2524+74_2524+75insTCTTTCAAC MANE Select	ENSP00000368100.4:n.2524+74_2524+75insTCTTTCAAC
ENST00000638452.2:c.2227+74_2227+75insTCTTTCAAC	ENSP00000492349.2:n.2227+74_2227+75insTCTTTCAAC
ENST00000638504.1:n.2132+74_2132+75insTCTTTCAAC
ENST00000638568.2:c.2227+74_2227+75insTCTTTCAAC	ENSP00000491158.2:n.2227+74_2227+75insTCTTTCAAC
ENST00000639899.1:n.3043+74_3043+75insTCTTTCAAC
ENST00000640655.2:c.2227+74_2227+75insTCTTTCAAC	ENSP00000491596.2:n.2227+74_2227+75insTCTTTCAAC
ENST00000651160.1:c.*668+74_*668+75insTCTTTCAAC	ENSP00000498829.1:n.*668+74_*668+75insTCTTTCAAC
ENST00000651723.1:c.*2607+74_*2607+75insTCTTTCAAC	ENSP00000498237.1:n.*2607+74_*2607+75insTCTTTCAAC
ENST00000652016.1:c.*741+74_*741+75insTCTTTCAAC	ENSP00000498267.1:n.*741+74_*741+75insTCTTTCAAC
ENST00000652485.1:c.2557+74_2557+75insTCTTTCAAC	ENSP00000498973.1:n.2557+74_2557+75insTCTTTCAAC
ENST00000378823.7:c.2524+74_2524+75insTCTTTCAAC	ENSP00000368100.4:n.2524+74_2524+75insTCTTTCAAC
ENST00000423956.5:c.*710+74_*710+75insTCTTTCAAC	ENSP00000390971.1:n.*710+74_*710+75insTCTTTCAAC
ENST00000533482.5:c.*2150+74_*2150+75insTCTTTCAAC	ENSP00000431225.1:n.*2150+74_*2150+75insTCTTTCAAC
NM_005732.3:c.2524+74_2524+75insTCTTTCAAC	NP_005723.2:n.2524+74_2524+75insTCTTTCAAC
NM_005732.4:c.2524+74_2524+75insTCTTTCAAC MANE Select	NP_005723.2:n.2524+74_2524+75insTCTTTCAAC