Canonical Allele Identifier: CA2675215711

Gene: RAD50

Linked Data

• gnomAD v4: 5-132557372-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557374_132557375del , CM000667.2:g.132557374_132557375del	GRCh38
NC_000005.9:g.131893066_131893067del , CM000667.1:g.131893066_131893067del	GRCh37
NC_000005.8:g.131920965_131920966del	NCBI36
NG_021151.1:g.5451_5452del
NG_021151.2:g.5398_5399del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.50_51del MANE Select	ENSP00000368100.4:p.Ile17ArgfsTer5
ENST00000638452.2:c.-168-1910_-168-1909del	ENSP00000492349.2:n.-168-1910_-168-1909de...
ENST00000638504.1:n.207-1910_207-1909del
ENST00000638568.2:c.-169+901_-169+902del	ENSP00000491158.2:n.-169+901_-169+902del
ENST00000639899.1:n.290-1910_290-1909del
ENST00000640655.2:c.-168-1910_-168-1909del	ENSP00000491596.2:n.-168-1910_-168-1909de...
ENST00000651160.1:c.50_51del	ENSP00000498829.1:p.Ile17ArgfsTer5
ENST00000651541.1:c.-169+365_-169+366del	ENSP00000498795.1:n.-169+365_-169+366del
ENST00000651658.1:n.118_119del
ENST00000651723.1:c.50_51del	ENSP00000498237.1:p.Ile17ArgfsTer5
ENST00000652016.1:c.50_51del	ENSP00000498267.1:p.Ile17ArgfsTer5
ENST00000652485.1:c.50_51del	ENSP00000498973.1:p.Ile17ArgfsTer5
ENST00000378823.7:c.50_51del	ENSP00000368100.4:p.Ile17ArgfsTer5
ENST00000416135.5:c.-169+901_-169+902del	ENSP00000389515.1:n.-169+901_-169+902del
ENST00000423956.5:c.50_51del	ENSP00000390971.1:p.Ile17ArgfsTer5
ENST00000453394.5:c.50_51del	ENSP00000400049.1:p.Ile17ArgfsTer5
ENST00000533482.5:c.50_51del	ENSP00000431225.1:p.Ile17ArgfsTer5
NM_005732.3:c.50_51del	NP_005723.2:p.Ile17ArgfsTer5
NM_005732.4:c.50_51del MANE Select	NP_005723.2:p.Ile17ArgfsTer5