Canonical Allele Identifier: CA3404967

Gene: RAD50

Linked Data

• dbSNP Id: rs775925736
• ExAC: 5:131914960 ATACACTGAAGGTTATTT / A
• gnomAD v2: 5-131914960-ATACACTGAAGGTTATTT-A
• gnomAD v4: 5-132579268-ATACACTGAAGGTTATTT-A
• MyVariant Identifiers: chr5:g.131914961_131914977del (hg19) ; chr5:g.132579269_132579285del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579273_132579289del , CM000667.2:g.132579273_132579289del	GRCh38
NC_000005.9:g.131914965_131914981del , CM000667.1:g.131914965_131914981del	GRCh37
NC_000005.8:g.131942864_131942880del	NCBI36
NG_021151.1:g.27350_27366del
NG_021151.2:g.27297_27313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.366-44_366-28del MANE Select	ENSP00000368100.4:n.366-44_366-28del
ENST00000638452.2:c.69-44_69-28del	ENSP00000492349.2:n.69-44_69-28del
ENST00000638504.1:n.442+3345_442+3361del
ENST00000638568.2:c.69-44_69-28del	ENSP00000491158.2:n.69-44_69-28del
ENST00000639899.1:n.526-44_526-28del
ENST00000640655.2:c.69-44_69-28del	ENSP00000491596.2:n.69-44_69-28del
ENST00000651160.1:c.366-44_366-28del	ENSP00000498829.1:n.366-44_366-28del
ENST00000651541.1:c.69-44_69-28del	ENSP00000498795.1:n.69-44_69-28del
ENST00000651658.1:n.434-44_434-28del
ENST00000651723.1:c.*449-44_*449-28del	ENSP00000498237.1:n.*449-44_*449-28del
ENST00000652016.1:c.366-44_366-28del	ENSP00000498267.1:n.366-44_366-28del
ENST00000652485.1:c.366-44_366-28del	ENSP00000498973.1:n.366-44_366-28del
ENST00000378823.7:c.366-44_366-28del	ENSP00000368100.4:n.366-44_366-28del
ENST00000416135.5:c.69-44_69-28del	ENSP00000389515.1:n.69-44_69-28del
ENST00000423956.5:c.366-44_366-28del	ENSP00000390971.1:n.366-44_366-28del
ENST00000453394.5:c.366-44_366-28del	ENSP00000400049.1:n.366-44_366-28del
ENST00000533482.5:c.301-44_301-28del	ENSP00000431225.1:n.301-44_301-28del
NM_005732.3:c.366-44_366-28del	NP_005723.2:n.366-44_366-28del
NM_005732.4:c.366-44_366-28del MANE Select	NP_005723.2:n.366-44_366-28del