Canonical Allele Identifier: CA1583222408

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132569568_132569571delinsAAAG , CM000667.2:g.132569568_132569571delinsAAAG	GRCh38
NC_000005.9:g.131905260_131905263delinsAAAG , CM000667.1:g.131905260_131905263delinsAAAG	GRCh37
NC_000005.8:g.131933159_131933162delinsAAAG	NCBI36
NG_021151.1:g.17645_17648delinsAAAG
NG_021151.2:g.17592_17595delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.214-6209_214-6206delinsAAAG MANE Select	ENSP00000368100.4:n.214-6209_214-6206delinsAAAG
ENST00000638452.2:c.-84-6209_-84-6206delinsAAAG	ENSP00000492349.2:n.-84-6209_-84-6206delinsAAAG
ENST00000638504.1:n.291-6209_291-6206delinsAAAG
ENST00000638568.2:c.-84-6209_-84-6206delinsAAAG	ENSP00000491158.2:n.-84-6209_-84-6206delinsAAAG
ENST00000639899.1:n.374-6209_374-6206delinsAAAG
ENST00000640655.2:c.-84-6209_-84-6206delinsAAAG	ENSP00000491596.2:n.-84-6209_-84-6206delinsAAAG
ENST00000651160.1:c.214-6209_214-6206delinsAAAG	ENSP00000498829.1:n.214-6209_214-6206delinsAAAG
ENST00000651541.1:c.-84-6209_-84-6206delinsAAAG	ENSP00000498795.1:n.-84-6209_-84-6206delinsAAAG
ENST00000651658.1:n.282-6209_282-6206delinsAAAG
ENST00000651723.1:c.*362-6209_*362-6206delinsAAAG	ENSP00000498237.1:n.*362-6209_*362-6206delinsAAAG
ENST00000652016.1:c.214-6209_214-6206delinsAAAG	ENSP00000498267.1:n.214-6209_214-6206delinsAAAG
ENST00000652485.1:c.214-6209_214-6206delinsAAAG	ENSP00000498973.1:n.214-6209_214-6206delinsAAAG
ENST00000378823.7:c.214-6209_214-6206delinsAAAG	ENSP00000368100.4:n.214-6209_214-6206delinsAAAG
ENST00000416135.5:c.-84-6209_-84-6206delinsAAAG	ENSP00000389515.1:n.-84-6209_-84-6206delinsAAAG
ENST00000423956.5:c.214-6209_214-6206delinsAAAG	ENSP00000390971.1:n.214-6209_214-6206delinsAAAG
ENST00000453394.5:c.214-6209_214-6206delinsAAAG	ENSP00000400049.1:n.214-6209_214-6206delinsAAAG
ENST00000533482.5:c.214-6209_214-6206delinsAAAG	ENSP00000431225.1:n.214-6209_214-6206delinsAAAG
NM_005732.3:c.214-6209_214-6206delinsAAAG	NP_005723.2:n.214-6209_214-6206delinsAAAG
NM_005732.4:c.214-6209_214-6206delinsAAAG MANE Select	NP_005723.2:n.214-6209_214-6206delinsAAAG