Canonical Allele Identifier: CA562774983

Gene: RAD50

Linked Data

• dbSNP Id: rs1377877247
• gnomAD v2: 5-131940734-A-ATTTATT
• gnomAD v3: 5-132605042-A-ATTTATT
• gnomAD v4: 5-132605042-A-ATTTATT
• MyVariant Identifiers: chr5:g.131940740_131940741insTTTATT (hg19) ; chr5:g.131940734_131940735insTTTATT (hg19) ; chr5:g.132605048_132605049insTTTATT (hg38) ; chr5:g.132605042_132605043insTTTATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132605058_132605063dup , CM000667.2:g.132605058_132605063dup	GRCh38
NC_000005.9:g.131940750_131940755dup , CM000667.1:g.131940750_131940755dup	GRCh37
NC_000005.8:g.131968649_131968654dup	NCBI36
NG_021151.1:g.53135_53140dup
NG_021151.2:g.53082_53087dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2718+59_2718+64dup MANE Select	ENSP00000368100.4:n.2718+59_2718+64dup
ENST00000638452.2:c.2421+59_2421+64dup	ENSP00000492349.2:n.2421+59_2421+64dup
ENST00000638504.1:n.2326+59_2326+64dup
ENST00000638568.2:c.2421+59_2421+64dup	ENSP00000491158.2:n.2421+59_2421+64dup
ENST00000639899.1:n.3237+59_3237+64dup
ENST00000640655.2:c.2421+59_2421+64dup	ENSP00000491596.2:n.2421+59_2421+64dup
ENST00000651160.1:c.*862+59_*862+64dup	ENSP00000498829.1:n.*862+59_*862+64dup
ENST00000651723.1:c.*2801+59_*2801+64dup	ENSP00000498237.1:n.*2801+59_*2801+64dup
ENST00000652016.1:c.*935+59_*935+64dup	ENSP00000498267.1:n.*935+59_*935+64dup
ENST00000378823.7:c.2718+59_2718+64dup	ENSP00000368100.4:n.2718+59_2718+64dup
ENST00000423956.5:c.*904+59_*904+64dup	ENSP00000390971.1:n.*904+59_*904+64dup
ENST00000533482.5:c.*2344+59_*2344+64dup	ENSP00000431225.1:n.*2344+59_*2344+64dup
NM_005732.3:c.2718+59_2718+64dup	NP_005723.2:n.2718+59_2718+64dup
NM_005732.4:c.2718+59_2718+64dup MANE Select	NP_005723.2:n.2718+59_2718+64dup