Canonical Allele Identifier: CA1583239205

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589695_132589697delinsCTG , CM000667.2:g.132589695_132589697delinsCTG	GRCh38
NC_000005.9:g.131925387_131925389delinsCTG , CM000667.1:g.131925387_131925389delinsCTG	GRCh37
NC_000005.8:g.131953286_131953288delinsCTG	NCBI36
NG_021151.1:g.37772_37774delinsCTG
NG_021151.2:g.37719_37721delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1310_1312delinsCTG MANE Select	ENSP00000368100.4:p.Thr437=
ENST00000638452.2:c.1013_1015delinsCTG	ENSP00000492349.2:p.Thr338=
ENST00000638504.1:n.996_998delinsCTG
ENST00000638568.2:c.1013_1015delinsCTG	ENSP00000491158.2:p.Thr338=
ENST00000639899.1:n.1829_1831delinsCTG
ENST00000640655.2:c.1013_1015delinsCTG	ENSP00000491596.2:p.Thr338=
ENST00000651160.1:c.1310_1312delinsCTG	ENSP00000498829.1:p.Thr437=
ENST00000651541.1:c.1013_1015delinsCTG	ENSP00000498795.1:p.Thr338=
ENST00000651658.1:n.1737_1739delinsCTG
ENST00000651723.1:c.*1393_*1395delinsCTG	ENSP00000498237.1:n.*1393_*1395delinsCTG
ENST00000652016.1:c.1310_1312delinsCTG	ENSP00000498267.1:p.Thr437=
ENST00000652485.1:c.1310_1312delinsCTG	ENSP00000498973.1:p.Thr437=
ENST00000378823.7:c.1310_1312delinsCTG	ENSP00000368100.4:p.Thr437=
ENST00000423956.5:c.1310_1312delinsCTG	ENSP00000390971.1:p.Thr437=
ENST00000453394.5:c.1310_1312delinsCTG	ENSP00000400049.1:p.Thr437=
ENST00000533482.5:c.*936_*938delinsCTG	ENSP00000431225.1:n.*936_*938delinsCTG
NM_005732.3:c.1310_1312delinsCTG	NP_005723.2:p.Thr437=
NM_005732.4:c.1310_1312delinsCTG MANE Select	NP_005723.2:p.Thr437=