Canonical Allele Identifier: CA2514313308

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591756_132591757insAAAAGTTAACAGTAATGTGCATGTGTG , CM000667.2:g.132591756_132591757insAAAAGTTAACAGTAATGTGCATGTGTG	GRCh38
NC_000005.9:g.131927448_131927449insAAAAGTTAACAGTAATGTGCATGTGTG , CM000667.1:g.131927448_131927449insAAAAGTTAACAGTAATGTGCATGTGTG	GRCh37
NC_000005.8:g.131955347_131955348insAAAAGTTAACAGTAATGTGCATGTGTG	NCBI36
NG_021151.1:g.39833_39834insAAAAGTTAACAGTAATGTGCATGTGTG
NG_021151.2:g.39780_39781insAAAAGTTAACAGTAATGTGCATGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1636-121_1636-120insAAAAGTTAACAGTAATGTGCATGTGTG MANE Select	ENSP00000368100.4:n.1636-121_1636-120insAAAAGTTAACAGTAATGTGCA...
ENST00000638452.2:c.1339-121_1339-120insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000492349.2:n.1339-121_1339-120insAAAAGTTAACAGTAATGTGCA...
ENST00000638504.1:n.1322-121_1322-120insAAAAGTTAACAGTAATGTGCATGTGTG
ENST00000638568.2:c.1339-121_1339-120insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000491158.2:n.1339-121_1339-120insAAAAGTTAACAGTAATGTGCA...
ENST00000639899.1:n.2155-121_2155-120insAAAAGTTAACAGTAATGTGCATGTGTG
ENST00000640655.2:c.1339-121_1339-120insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000491596.2:n.1339-121_1339-120insAAAAGTTAACAGTAATGTGCA...
ENST00000651160.1:c.1636-121_1636-120insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000498829.1:n.1636-121_1636-120insAAAAGTTAACAGTAATGTGCA...
ENST00000651541.1:c.1339-121_1339-120insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000498795.1:n.1339-121_1339-120insAAAAGTTAACAGTAATGTGCA...
ENST00000651658.1:n.2063-121_2063-120insAAAAGTTAACAGTAATGTGCATGTGTG
ENST00000651723.1:c.*1719-121_*1719-120insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000498237.1:n.*1719-121_*1719-120insAAAAGTTAACAGTAATGTG...
ENST00000652016.1:c.1636-121_1636-120insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000498267.1:n.1636-121_1636-120insAAAAGTTAACAGTAATGTGCA...
ENST00000652485.1:c.1669-121_1669-120insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000498973.1:n.1669-121_1669-120insAAAAGTTAACAGTAATGTGCA...
ENST00000378823.7:c.1636-121_1636-120insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000368100.4:n.1636-121_1636-120insAAAAGTTAACAGTAATGTGCA...
ENST00000423956.5:c.1635+350_1635+351insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000390971.1:n.1635+350_1635+351insAAAAGTTAACAGTAATGTGCA...
ENST00000434288.1:c.131-121_131-120insAAAAGTTAACAGTAATGTGCATGTGTG
ENST00000453394.5:c.1453-121_1453-120insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000400049.1:n.1453-121_1453-120insAAAAGTTAACAGTAATGTGCA...
ENST00000533482.5:c.*1262-121_*1262-120insAAAAGTTAACAGTAATGTGCATGTGTG	ENSP00000431225.1:n.*1262-121_*1262-120insAAAAGTTAACAGTAATGTG...
NM_005732.3:c.1636-121_1636-120insAAAAGTTAACAGTAATGTGCATGTGTG	NP_005723.2:n.1636-121_1636-120insAAAAGTTAACAGTAATGTGCATGTGTG...
NM_005732.4:c.1636-121_1636-120insAAAAGTTAACAGTAATGTGCATGTGTG MANE Select	NP_005723.2:n.1636-121_1636-120insAAAAGTTAACAGTAATGTGCATGTGTG...