Canonical Allele Identifier: CA1583229646

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609285_132609289delinsAAAAG , CM000667.2:g.132609285_132609289delinsAAAAG	GRCh38
NC_000005.9:g.131944977_131944981delinsAAAAG , CM000667.1:g.131944977_131944981delinsAAAAG	GRCh37
NC_000005.8:g.131972876_131972880delinsAAAAG	NCBI36
NG_021151.1:g.57362_57366delinsAAAAG
NG_021151.2:g.57309_57313delinsAAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2925_2929delinsAAAAG MANE Select	ENSP00000368100.4:p.Gln975=
ENST00000638452.2:c.2628_2632delinsAAAAG	ENSP00000492349.2:p.Gln876=
ENST00000638504.1:n.2533_2537delinsAAAAG
ENST00000638568.2:c.2628_2632delinsAAAAG	ENSP00000491158.2:p.Gln876=
ENST00000639899.1:n.3444_3448delinsAAAAG
ENST00000640655.2:c.2628_2632delinsAAAAG	ENSP00000491596.2:p.Gln876=
ENST00000651160.1:c.*1069_*1073delinsAAAAG	ENSP00000498829.1:n.*1069_*1073delinsAAAAG
ENST00000651723.1:c.*3008_*3012delinsAAAAG	ENSP00000498237.1:n.*3008_*3012delinsAAAAG
ENST00000378823.7:c.2925_2929delinsAAAAG	ENSP00000368100.4:p.Gln975=
ENST00000423956.5:c.*1111_*1115delinsAAAAG	ENSP00000390971.1:n.*1111_*1115delinsAAAAG
ENST00000533482.5:c.*2551_*2555delinsAAAAG	ENSP00000431225.1:n.*2551_*2555delinsAAAAG
NM_005732.3:c.2925_2929delinsAAAAG	NP_005723.2:p.Gln975=
NM_005732.4:c.2925_2929delinsAAAAG MANE Select	NP_005723.2:p.Gln975=