Canonical Allele Identifier: CA804019167

Gene: RAD50

Linked Data

• dbSNP Id: rs1404352791
• MyVariant Identifiers: chr5:g.131915479_131915481del (hg19) ; chr5:g.132579787_132579789del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579790_132579792del , CM000667.2:g.132579790_132579792del	GRCh38
NC_000005.9:g.131915482_131915484del , CM000667.1:g.131915482_131915484del	GRCh37
NC_000005.8:g.131943381_131943383del	NCBI36
NG_021151.1:g.27867_27869del
NG_021151.2:g.27814_27816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.552-72_552-70del MANE Select	ENSP00000368100.4:n.552-72_552-70del
ENST00000638452.2:c.255-72_255-70del	ENSP00000492349.2:n.255-72_255-70del
ENST00000638504.1:n.442+3862_442+3864del
ENST00000638568.2:c.255-72_255-70del	ENSP00000491158.2:n.255-72_255-70del
ENST00000639899.1:n.999_1001del
ENST00000640655.2:c.255-72_255-70del	ENSP00000491596.2:n.255-72_255-70del
ENST00000651160.1:c.552-72_552-70del	ENSP00000498829.1:n.552-72_552-70del
ENST00000651541.1:c.255-72_255-70del	ENSP00000498795.1:n.255-72_255-70del
ENST00000651658.1:n.907_909del
ENST00000651723.1:c.*635-72_*635-70del	ENSP00000498237.1:n.*635-72_*635-70del
ENST00000652016.1:c.552-72_552-70del	ENSP00000498267.1:n.552-72_552-70del
ENST00000652485.1:c.552-72_552-70del	ENSP00000498973.1:n.552-72_552-70del
ENST00000378823.7:c.552-72_552-70del	ENSP00000368100.4:n.552-72_552-70del
ENST00000416135.5:c.255-72_255-70del	ENSP00000389515.1:n.255-72_255-70del
ENST00000423956.5:c.552-72_552-70del	ENSP00000390971.1:n.552-72_552-70del
ENST00000453394.5:c.552-72_552-70del	ENSP00000400049.1:n.552-72_552-70del
ENST00000487596.1:n.46_48del
ENST00000533482.5:c.*178-72_*178-70del	ENSP00000431225.1:n.*178-72_*178-70del
NM_005732.3:c.552-72_552-70del	NP_005723.2:n.552-72_552-70del
NM_005732.4:c.552-72_552-70del MANE Select	NP_005723.2:n.552-72_552-70del