Canonical Allele Identifier: CA1583241818

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594921_132594925delinsAAAAG , CM000667.2:g.132594921_132594925delinsAAAAG	GRCh38
NC_000005.9:g.131930613_131930617delinsAAAAG , CM000667.1:g.131930613_131930617delinsAAAAG	GRCh37
NC_000005.8:g.131958512_131958516delinsAAAAG	NCBI36
NG_021151.1:g.42998_43002delinsAAAAG
NG_021151.2:g.42945_42949delinsAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1846_1850delinsAAAAG MANE Select	ENSP00000368100.4:p.Lys616=
ENST00000638452.2:c.1549_1553delinsAAAAG	ENSP00000492349.2:p.Lys517=
ENST00000638504.1:n.1480-183_1480-179delinsAAAAG
ENST00000638568.2:c.1549_1553delinsAAAAG	ENSP00000491158.2:p.Lys517=
ENST00000639899.1:n.2365_2369delinsAAAAG
ENST00000640655.2:c.1549_1553delinsAAAAG	ENSP00000491596.2:p.Lys517=
ENST00000651160.1:c.*16-183_*16-179delinsAAAAG	ENSP00000498829.1:n.*16-183_*16-179delinsAAAAG
ENST00000651658.1:n.2389_2393delinsAAAAG
ENST00000651723.1:c.*1929_*1933delinsAAAAG	ENSP00000498237.1:n.*1929_*1933delinsAAAAG
ENST00000652016.1:c.*89-183_*89-179delinsAAAAG	ENSP00000498267.1:n.*89-183_*89-179delinsAAAAG
ENST00000652485.1:c.1879_1883delinsAAAAG	ENSP00000498973.1:p.Lys627=
ENST00000378823.7:c.1846_1850delinsAAAAG	ENSP00000368100.4:p.Lys616=
ENST00000423956.5:c.*32_*36delinsAAAAG	ENSP00000390971.1:n.*32_*36delinsAAAAG
ENST00000453394.5:c.1663_1667delinsAAAAG	ENSP00000400049.1:p.Lys555=
ENST00000533482.5:c.*1472_*1476delinsAAAAG	ENSP00000431225.1:n.*1472_*1476delinsAAAAG
NM_005732.3:c.1846_1850delinsAAAAG	NP_005723.2:p.Lys616=
NM_005732.4:c.1846_1850delinsAAAAG MANE Select	NP_005723.2:p.Lys616=