Canonical Allele Identifier: CA1583239350

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589756_132589757delinsGA , CM000667.2:g.132589756_132589757delinsGA	GRCh38
NC_000005.9:g.131925448_131925449delinsGA , CM000667.1:g.131925448_131925449delinsGA	GRCh37
NC_000005.8:g.131953347_131953348delinsGA	NCBI36
NG_021151.1:g.37833_37834delinsGA
NG_021151.2:g.37780_37781delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1371_1372delinsGA MANE Select	ENSP00000368100.4:p.Leu457=
ENST00000638452.2:c.1074_1075delinsGA	ENSP00000492349.2:p.Leu358=
ENST00000638504.1:n.1057_1058delinsGA
ENST00000638568.2:c.1074_1075delinsGA	ENSP00000491158.2:p.Leu358=
ENST00000639899.1:n.1890_1891delinsGA
ENST00000640655.2:c.1074_1075delinsGA	ENSP00000491596.2:p.Leu358=
ENST00000651160.1:c.1371_1372delinsGA	ENSP00000498829.1:p.Leu457=
ENST00000651541.1:c.1074_1075delinsGA	ENSP00000498795.1:p.Leu358=
ENST00000651658.1:n.1798_1799delinsGA
ENST00000651723.1:c.*1454_*1455delinsGA	ENSP00000498237.1:n.*1454_*1455delinsGA
ENST00000652016.1:c.1371_1372delinsGA	ENSP00000498267.1:p.Leu457=
ENST00000652485.1:c.1371_1372delinsGA	ENSP00000498973.1:p.Leu457=
ENST00000378823.7:c.1371_1372delinsGA	ENSP00000368100.4:p.Leu457=
ENST00000423956.5:c.1371_1372delinsGA	ENSP00000390971.1:p.Leu457=
ENST00000453394.5:c.1371_1372delinsGA	ENSP00000400049.1:p.Leu457=
ENST00000533482.5:c.*997_*998delinsGA	ENSP00000431225.1:n.*997_*998delinsGA
NM_005732.3:c.1371_1372delinsGA	NP_005723.2:p.Leu457=
NM_005732.4:c.1371_1372delinsGA MANE Select	NP_005723.2:p.Leu457=