Canonical Allele Identifier: CA127254013

Gene: RAD50

Linked Data

• dbSNP Id: rs758208385
• gnomAD v3: 5-132557259-T-TG
• gnomAD v4: 5-132557259-T-TG
• MyVariant Identifiers: chr5:g.131892951_131892952insG (hg19) ; chr5:g.132557259_132557260insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557260dup , CM000667.2:g.132557260dup	GRCh38
NC_000005.9:g.131892952dup , CM000667.1:g.131892952dup	GRCh37
NC_000005.8:g.131920851dup	NCBI36
NG_021151.1:g.5337dup
NG_021151.2:g.5284dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-65dup MANE Select	ENSP00000368100.4:n.-65dup
ENST00000638452.2:c.-168-2024dup	ENSP00000492349.2:n.-168-2024dup
ENST00000638504.1:n.207-2024dup
ENST00000638568.2:c.-169+787dup	ENSP00000491158.2:n.-169+787dup
ENST00000639899.1:n.290-2024dup
ENST00000640655.2:c.-168-2024dup	ENSP00000491596.2:n.-168-2024dup
ENST00000651160.1:c.-65dup	ENSP00000498829.1:n.-65dup
ENST00000651541.1:c.-169+251dup	ENSP00000498795.1:n.-169+251dup
ENST00000651658.1:n.4dup
ENST00000651723.1:c.-65dup	ENSP00000498237.1:n.-65dup
ENST00000652016.1:c.-65dup	ENSP00000498267.1:n.-65dup
ENST00000652485.1:c.-65dup	ENSP00000498973.1:n.-65dup
ENST00000378823.7:c.-65dup	ENSP00000368100.4:n.-65dup
ENST00000416135.5:c.-169+787dup	ENSP00000389515.1:n.-169+787dup
ENST00000423956.5:c.-65dup	ENSP00000390971.1:n.-65dup
ENST00000453394.5:c.-65dup	ENSP00000400049.1:n.-65dup
ENST00000533482.5:c.-65dup	ENSP00000431225.1:n.-65dup
NM_005732.3:c.-65dup	NP_005723.2:n.-65dup
NM_005732.4:c.-65dup MANE Select	NP_005723.2:n.-65dup