Canonical Allele Identifier: CA1583226913

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579428_132579434delinsAGAAGAT , CM000667.2:g.132579428_132579434delinsAGAAGAT	GRCh38
NC_000005.9:g.131915120_131915126delinsAGAAGAT , CM000667.1:g.131915120_131915126delinsAGAAGAT	GRCh37
NC_000005.8:g.131943019_131943025delinsAGAAGAT	NCBI36
NG_021151.1:g.27505_27511delinsAGAAGAT
NG_021151.2:g.27452_27458delinsAGAAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.477_483delinsAGAAGAT MANE Select	ENSP00000368100.4:p.Gln159=
ENST00000638452.2:c.180_186delinsAGAAGAT	ENSP00000492349.2:p.Gln60=
ENST00000638504.1:n.442+3500_442+3506delinsAGAAGAT
ENST00000638568.2:c.180_186delinsAGAAGAT	ENSP00000491158.2:p.Gln60=
ENST00000639899.1:n.637_643delinsAGAAGAT
ENST00000640655.2:c.180_186delinsAGAAGAT	ENSP00000491596.2:p.Gln60=
ENST00000651160.1:c.477_483delinsAGAAGAT	ENSP00000498829.1:p.Gln159=
ENST00000651541.1:c.180_186delinsAGAAGAT	ENSP00000498795.1:p.Gln60=
ENST00000651658.1:n.545_551delinsAGAAGAT
ENST00000651723.1:c.*560_*566delinsAGAAGAT	ENSP00000498237.1:n.*560_*566delinsAGAAGAT
ENST00000652016.1:c.477_483delinsAGAAGAT	ENSP00000498267.1:p.Gln159=
ENST00000652485.1:c.477_483delinsAGAAGAT	ENSP00000498973.1:p.Gln159=
ENST00000378823.7:c.477_483delinsAGAAGAT	ENSP00000368100.4:p.Gln159=
ENST00000416135.5:c.180_186delinsAGAAGAT	ENSP00000389515.1:p.Gln60=
ENST00000423956.5:c.477_483delinsAGAAGAT	ENSP00000390971.1:p.Gln159=
ENST00000453394.5:c.477_483delinsAGAAGAT	ENSP00000400049.1:p.Gln159=
ENST00000533482.5:c.*103_*109delinsAGAAGAT	ENSP00000431225.1:n.*103_*109delinsAGAAGAT
NM_005732.3:c.477_483delinsAGAAGAT	NP_005723.2:p.Gln159=
NM_005732.4:c.477_483delinsAGAAGAT MANE Select	NP_005723.2:p.Gln159=