Canonical Allele Identifier: CA804009756

Gene: RAD50

Linked Data

• dbSNP Id: rs1451202449
• gnomAD v3: 5-132605039-ATTAT-A
• gnomAD v4: 5-132605039-ATTAT-A
• MyVariant Identifiers: chr5:g.131940732_131940735del (hg19) ; chr5:g.132605040_132605043del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132605046_132605049del , CM000667.2:g.132605046_132605049del	GRCh38
NC_000005.9:g.131940738_131940741del , CM000667.1:g.131940738_131940741del	GRCh37
NC_000005.8:g.131968637_131968640del	NCBI36
NG_021151.1:g.53123_53126del
NG_021151.2:g.53070_53073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2718+47_2718+50del MANE Select	ENSP00000368100.4:n.2718+47_2718+50del
ENST00000638452.2:c.2421+47_2421+50del	ENSP00000492349.2:n.2421+47_2421+50del
ENST00000638504.1:n.2326+47_2326+50del
ENST00000638568.2:c.2421+47_2421+50del	ENSP00000491158.2:n.2421+47_2421+50del
ENST00000639899.1:n.3237+47_3237+50del
ENST00000640655.2:c.2421+47_2421+50del	ENSP00000491596.2:n.2421+47_2421+50del
ENST00000651160.1:c.*862+47_*862+50del	ENSP00000498829.1:n.*862+47_*862+50del
ENST00000651723.1:c.*2801+47_*2801+50del	ENSP00000498237.1:n.*2801+47_*2801+50del
ENST00000652016.1:c.*935+47_*935+50del	ENSP00000498267.1:n.*935+47_*935+50del
ENST00000378823.7:c.2718+47_2718+50del	ENSP00000368100.4:n.2718+47_2718+50del
ENST00000423956.5:c.*904+47_*904+50del	ENSP00000390971.1:n.*904+47_*904+50del
ENST00000533482.5:c.*2344+47_*2344+50del	ENSP00000431225.1:n.*2344+47_*2344+50del
NM_005732.3:c.2718+47_2718+50del	NP_005723.2:n.2718+47_2718+50del
NM_005732.4:c.2718+47_2718+50del MANE Select	NP_005723.2:n.2718+47_2718+50del