Canonical Allele Identifier: CA562768351

Gene: RAD50

Linked Data

• gnomAD v2: 5-131905314-A-AAGTAAAG
• gnomAD v3: 5-132569622-A-AAGTAAAG
• gnomAD v4: 5-132569622-A-AAGTAAAG
• MyVariant Identifiers: chr5:g.131905314_131905315insAGTAAAG (hg19) ; chr5:g.132569622_132569623insAGTAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132569622_132569623insAGTAAAG , CM000667.2:g.132569622_132569623insAGTAAAG	GRCh38
NC_000005.9:g.131905314_131905315insAGTAAAG , CM000667.1:g.131905314_131905315insAGTAAAG	GRCh37
NC_000005.8:g.131933213_131933214insAGTAAAG	NCBI36
NG_021151.1:g.17699_17700insAGTAAAG
NG_021151.2:g.17646_17647insAGTAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.214-6155_214-6154insAGTAAAG MANE Select	ENSP00000368100.4:n.214-6155_214-6154insAGTAAAG
ENST00000638452.2:c.-84-6155_-84-6154insAGTAAAG	ENSP00000492349.2:n.-84-6155_-84-6154insAGTAAAG
ENST00000638504.1:n.291-6155_291-6154insAGTAAAG
ENST00000638568.2:c.-84-6155_-84-6154insAGTAAAG	ENSP00000491158.2:n.-84-6155_-84-6154insAGTAAAG
ENST00000639899.1:n.374-6155_374-6154insAGTAAAG
ENST00000640655.2:c.-84-6155_-84-6154insAGTAAAG	ENSP00000491596.2:n.-84-6155_-84-6154insAGTAAAG
ENST00000651160.1:c.214-6155_214-6154insAGTAAAG	ENSP00000498829.1:n.214-6155_214-6154insAGTAAAG
ENST00000651541.1:c.-84-6155_-84-6154insAGTAAAG	ENSP00000498795.1:n.-84-6155_-84-6154insAGTAAAG
ENST00000651658.1:n.282-6155_282-6154insAGTAAAG
ENST00000651723.1:c.*362-6155_*362-6154insAGTAAAG	ENSP00000498237.1:n.*362-6155_*362-6154insAGTAAAG
ENST00000652016.1:c.214-6155_214-6154insAGTAAAG	ENSP00000498267.1:n.214-6155_214-6154insAGTAAAG
ENST00000652485.1:c.214-6155_214-6154insAGTAAAG	ENSP00000498973.1:n.214-6155_214-6154insAGTAAAG
ENST00000378823.7:c.214-6155_214-6154insAGTAAAG	ENSP00000368100.4:n.214-6155_214-6154insAGTAAAG
ENST00000416135.5:c.-84-6155_-84-6154insAGTAAAG	ENSP00000389515.1:n.-84-6155_-84-6154insAGTAAAG
ENST00000423956.5:c.214-6155_214-6154insAGTAAAG	ENSP00000390971.1:n.214-6155_214-6154insAGTAAAG
ENST00000453394.5:c.214-6155_214-6154insAGTAAAG	ENSP00000400049.1:n.214-6155_214-6154insAGTAAAG
ENST00000533482.5:c.214-6155_214-6154insAGTAAAG	ENSP00000431225.1:n.214-6155_214-6154insAGTAAAG
NM_005732.3:c.214-6155_214-6154insAGTAAAG	NP_005723.2:n.214-6155_214-6154insAGTAAAG
NM_005732.4:c.214-6155_214-6154insAGTAAAG MANE Select	NP_005723.2:n.214-6155_214-6154insAGTAAAG