Canonical Allele Identifier: CA2675216131

Gene: RAD50

Linked Data

• gnomAD v4: 5-132575674-TTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575677_132575680del , CM000667.2:g.132575677_132575680del	GRCh38
NC_000005.9:g.131911369_131911372del , CM000667.1:g.131911369_131911372del	GRCh37
NC_000005.8:g.131939268_131939271del	NCBI36
NG_021151.1:g.23754_23757del
NG_021151.2:g.23701_23704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.214-100_214-97del MANE Select	ENSP00000368100.4:n.214-100_214-97del
ENST00000638452.2:c.-84-100_-84-97del	ENSP00000492349.2:n.-84-100_-84-97del
ENST00000638504.1:n.291-100_291-97del
ENST00000638568.2:c.-84-100_-84-97del	ENSP00000491158.2:n.-84-100_-84-97del
ENST00000639899.1:n.374-100_374-97del
ENST00000640655.2:c.-84-100_-84-97del	ENSP00000491596.2:n.-84-100_-84-97del
ENST00000651160.1:c.214-100_214-97del	ENSP00000498829.1:n.214-100_214-97del
ENST00000651541.1:c.-84-100_-84-97del	ENSP00000498795.1:n.-84-100_-84-97del
ENST00000651658.1:n.282-100_282-97del
ENST00000651723.1:c.*362-100_*362-97del	ENSP00000498237.1:n.*362-100_*362-97del
ENST00000652016.1:c.214-100_214-97del	ENSP00000498267.1:n.214-100_214-97del
ENST00000652485.1:c.214-100_214-97del	ENSP00000498973.1:n.214-100_214-97del
ENST00000378823.7:c.214-100_214-97del	ENSP00000368100.4:n.214-100_214-97del
ENST00000416135.5:c.-84-100_-84-97del	ENSP00000389515.1:n.-84-100_-84-97del
ENST00000423956.5:c.214-100_214-97del	ENSP00000390971.1:n.214-100_214-97del
ENST00000453394.5:c.214-100_214-97del	ENSP00000400049.1:n.214-100_214-97del
ENST00000533482.5:c.214-100_214-97del	ENSP00000431225.1:n.214-100_214-97del
NM_005732.3:c.214-100_214-97del	NP_005723.2:n.214-100_214-97del
NM_005732.4:c.214-100_214-97del MANE Select	NP_005723.2:n.214-100_214-97del