Canonical Allele Identifier: CA1583226842

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579327_132579332delinsAAGGTC , CM000667.2:g.132579327_132579332delinsAAGGTC	GRCh38
NC_000005.9:g.131915019_131915024delinsAAGGTC , CM000667.1:g.131915019_131915024delinsAAGGTC	GRCh37
NC_000005.8:g.131942918_131942923delinsAAGGTC	NCBI36
NG_021151.1:g.27404_27409delinsAAGGTC
NG_021151.2:g.27351_27356delinsAAGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.376_381delinsAAGGTC MANE Select	ENSP00000368100.4:p.Lys126=
ENST00000638452.2:c.79_84delinsAAGGTC	ENSP00000492349.2:p.Lys27=
ENST00000638504.1:n.442+3399_442+3404delinsAAGGTC
ENST00000638568.2:c.79_84delinsAAGGTC	ENSP00000491158.2:p.Lys27=
ENST00000639899.1:n.536_541delinsAAGGTC
ENST00000640655.2:c.79_84delinsAAGGTC	ENSP00000491596.2:p.Lys27=
ENST00000651160.1:c.376_381delinsAAGGTC	ENSP00000498829.1:p.Lys126=
ENST00000651541.1:c.79_84delinsAAGGTC	ENSP00000498795.1:p.Lys27=
ENST00000651658.1:n.444_449delinsAAGGTC
ENST00000651723.1:c.*459_*464delinsAAGGTC	ENSP00000498237.1:n.*459_*464delinsAAGGTC
ENST00000652016.1:c.376_381delinsAAGGTC	ENSP00000498267.1:p.Lys126=
ENST00000652485.1:c.376_381delinsAAGGTC	ENSP00000498973.1:p.Lys126=
ENST00000378823.7:c.376_381delinsAAGGTC	ENSP00000368100.4:p.Lys126=
ENST00000416135.5:c.79_84delinsAAGGTC	ENSP00000389515.1:p.Lys27=
ENST00000423956.5:c.376_381delinsAAGGTC	ENSP00000390971.1:p.Lys126=
ENST00000453394.5:c.376_381delinsAAGGTC	ENSP00000400049.1:p.Lys126=
ENST00000533482.5:c.*2_*7delinsAAGGTC	ENSP00000431225.1:n.*2_*7delinsAAGGTC
NM_005732.3:c.376_381delinsAAGGTC	NP_005723.2:p.Lys126=
NM_005732.4:c.376_381delinsAAGGTC MANE Select	NP_005723.2:p.Lys126=