Canonical Allele Identifier: CA1583237765

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588455_132588457delinsCAG , CM000667.2:g.132588455_132588457delinsCAG	GRCh38
NC_000005.9:g.131924147_131924149delinsCAG , CM000667.1:g.131924147_131924149delinsCAG	GRCh37
NC_000005.8:g.131952046_131952048delinsCAG	NCBI36
NG_021151.1:g.36532_36534delinsCAG
NG_021151.2:g.36479_36481delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1052-232_1052-230delinsCAG MANE Select	ENSP00000368100.4:n.1052-232_1052-230delinsCAG
ENST00000638452.2:c.755-232_755-230delinsCAG	ENSP00000492349.2:n.755-232_755-230delinsCAG
ENST00000638504.1:n.738-232_738-230delinsCAG
ENST00000638568.2:c.755-232_755-230delinsCAG	ENSP00000491158.2:n.755-232_755-230delinsCAG
ENST00000639899.1:n.1571-232_1571-230delinsCAG
ENST00000640655.2:c.755-232_755-230delinsCAG	ENSP00000491596.2:n.755-232_755-230delinsCAG
ENST00000651160.1:c.1052-232_1052-230delinsCAG	ENSP00000498829.1:n.1052-232_1052-230delinsCAG
ENST00000651541.1:c.755-232_755-230delinsCAG	ENSP00000498795.1:n.755-232_755-230delinsCAG
ENST00000651658.1:n.1479-232_1479-230delinsCAG
ENST00000651723.1:c.*1135-232_*1135-230delinsCAG	ENSP00000498237.1:n.*1135-232_*1135-230delinsCAG
ENST00000652016.1:c.1052-232_1052-230delinsCAG	ENSP00000498267.1:n.1052-232_1052-230delinsCAG
ENST00000652485.1:c.1052-232_1052-230delinsCAG	ENSP00000498973.1:n.1052-232_1052-230delinsCAG
ENST00000378823.7:c.1052-232_1052-230delinsCAG	ENSP00000368100.4:n.1052-232_1052-230delinsCAG
ENST00000423956.5:c.1052-232_1052-230delinsCAG	ENSP00000390971.1:n.1052-232_1052-230delinsCAG
ENST00000453394.5:c.1052-232_1052-230delinsCAG	ENSP00000400049.1:n.1052-232_1052-230delinsCAG
ENST00000487596.1:n.618-232_618-230delinsCAG
ENST00000533482.5:c.*678-232_*678-230delinsCAG	ENSP00000431225.1:n.*678-232_*678-230delinsCAG
NM_005732.3:c.1052-232_1052-230delinsCAG	NP_005723.2:n.1052-232_1052-230delinsCAG
NM_005732.4:c.1052-232_1052-230delinsCAG MANE Select	NP_005723.2:n.1052-232_1052-230delinsCAG