Canonical Allele Identifier: CA2675216845

Gene: RAD50

Linked Data

• gnomAD v4: 5-132588662-AATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588665_132588667del , CM000667.2:g.132588665_132588667del	GRCh38
NC_000005.9:g.131924357_131924359del , CM000667.1:g.131924357_131924359del	GRCh37
NC_000005.8:g.131952256_131952258del	NCBI36
NG_021151.1:g.36742_36744del
NG_021151.2:g.36689_36691del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1052-22_1052-20del MANE Select	ENSP00000368100.4:n.1052-22_1052-20del
ENST00000638452.2:c.755-22_755-20del	ENSP00000492349.2:n.755-22_755-20del
ENST00000638504.1:n.738-22_738-20del
ENST00000638568.2:c.755-22_755-20del	ENSP00000491158.2:n.755-22_755-20del
ENST00000639899.1:n.1571-22_1571-20del
ENST00000640655.2:c.755-22_755-20del	ENSP00000491596.2:n.755-22_755-20del
ENST00000651160.1:c.1052-22_1052-20del	ENSP00000498829.1:n.1052-22_1052-20del
ENST00000651541.1:c.755-22_755-20del	ENSP00000498795.1:n.755-22_755-20del
ENST00000651658.1:n.1479-22_1479-20del
ENST00000651723.1:c.*1135-22_*1135-20del	ENSP00000498237.1:n.*1135-22_*1135-20del
ENST00000652016.1:c.1052-22_1052-20del	ENSP00000498267.1:n.1052-22_1052-20del
ENST00000652485.1:c.1052-22_1052-20del	ENSP00000498973.1:n.1052-22_1052-20del
ENST00000378823.7:c.1052-22_1052-20del	ENSP00000368100.4:n.1052-22_1052-20del
ENST00000423956.5:c.1052-22_1052-20del	ENSP00000390971.1:n.1052-22_1052-20del
ENST00000453394.5:c.1052-22_1052-20del	ENSP00000400049.1:n.1052-22_1052-20del
ENST00000487596.1:n.618-22_618-20del
ENST00000533482.5:c.*678-22_*678-20del	ENSP00000431225.1:n.*678-22_*678-20del
NM_005732.3:c.1052-22_1052-20del	NP_005723.2:n.1052-22_1052-20del
NM_005732.4:c.1052-22_1052-20del MANE Select	NP_005723.2:n.1052-22_1052-20del