Canonical Allele Identifier: CA1081651030

Gene: RAD50

Linked Data

• dbSNP Id: rs1750659018
• gnomAD v3: 5-132589551-GTACA-G
• gnomAD v4: 5-132589551-GTACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589554_132589557del , CM000667.2:g.132589554_132589557del	GRCh38
NC_000005.9:g.131925246_131925249del , CM000667.1:g.131925246_131925249del	GRCh37
NC_000005.8:g.131953145_131953148del	NCBI36
NG_021151.1:g.37631_37634del
NG_021151.2:g.37578_37581del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1246-77_1246-74del MANE Select	ENSP00000368100.4:n.1246-77_1246-74del
ENST00000638452.2:c.949-77_949-74del	ENSP00000492349.2:n.949-77_949-74del
ENST00000638504.1:n.932-77_932-74del
ENST00000638568.2:c.949-77_949-74del	ENSP00000491158.2:n.949-77_949-74del
ENST00000639899.1:n.1765-77_1765-74del
ENST00000640655.2:c.949-77_949-74del	ENSP00000491596.2:n.949-77_949-74del
ENST00000651160.1:c.1246-77_1246-74del	ENSP00000498829.1:n.1246-77_1246-74del
ENST00000651541.1:c.949-77_949-74del	ENSP00000498795.1:n.949-77_949-74del
ENST00000651658.1:n.1673-77_1673-74del
ENST00000651723.1:c.*1329-77_*1329-74del	ENSP00000498237.1:n.*1329-77_*1329-74del
ENST00000652016.1:c.1246-77_1246-74del	ENSP00000498267.1:n.1246-77_1246-74del
ENST00000652485.1:c.1246-77_1246-74del	ENSP00000498973.1:n.1246-77_1246-74del
ENST00000378823.7:c.1246-77_1246-74del	ENSP00000368100.4:n.1246-77_1246-74del
ENST00000423956.5:c.1246-77_1246-74del	ENSP00000390971.1:n.1246-77_1246-74del
ENST00000453394.5:c.1246-77_1246-74del	ENSP00000400049.1:n.1246-77_1246-74del
ENST00000533482.5:c.*872-77_*872-74del	ENSP00000431225.1:n.*872-77_*872-74del
NM_005732.3:c.1246-77_1246-74del	NP_005723.2:n.1246-77_1246-74del
NM_005732.4:c.1246-77_1246-74del MANE Select	NP_005723.2:n.1246-77_1246-74del