Canonical Allele Identifier: CA562772529

Gene: RAD50

Linked Data

• dbSNP Id: rs1326889123
• gnomAD v2: 5-131892744-CGTCCCCGGCGGGCAGCCCCAGGCTG-C
• gnomAD v3: 5-132557052-CGTCCCCGGCGGGCAGCCCCAGGCTG-C
• gnomAD v4: 5-132557052-CGTCCCCGGCGGGCAGCCCCAGGCTG-C
• MyVariant Identifiers: chr5:g.131892745_131892769del (hg19) ; chr5:g.132557053_132557077del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557060_132557084del , CM000667.2:g.132557060_132557084del	GRCh38
NC_000005.9:g.131892752_131892776del , CM000667.1:g.131892752_131892776del	GRCh37
NC_000005.8:g.131920651_131920675del	NCBI36
NG_021151.1:g.5137_5161del
NG_021151.2:g.5084_5108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-265_-241del MANE Select	ENSP00000368100.4:n.-265_-241del
ENST00000638452.2:c.-168-2224_-168-2200del	ENSP00000492349.2:n.-168-2224_-168-2200del
ENST00000638504.1:n.207-2224_207-2200del
ENST00000638568.2:c.-169+587_-169+611del	ENSP00000491158.2:n.-169+587_-169+611del
ENST00000639899.1:n.290-2224_290-2200del
ENST00000640655.2:c.-168-2224_-168-2200del	ENSP00000491596.2:n.-168-2224_-168-2200del
ENST00000651160.1:c.-265_-241del	ENSP00000498829.1:n.-265_-241del
ENST00000651541.1:c.-169+51_-169+75del	ENSP00000498795.1:n.-169+51_-169+75del
ENST00000652016.1:c.-265_-241del	ENSP00000498267.1:n.-265_-241del
ENST00000652485.1:c.-265_-241del	ENSP00000498973.1:n.-265_-241del
ENST00000378823.7:c.-265_-241del	ENSP00000368100.4:n.-265_-241del
ENST00000416135.5:c.-169+587_-169+611del	ENSP00000389515.1:n.-169+587_-169+611del
ENST00000533482.5:c.-265_-241del	ENSP00000431225.1:n.-265_-241del
NM_005732.3:c.-265_-241del	NP_005723.2:n.-265_-241del
NM_005732.4:c.-265_-241del MANE Select	NP_005723.2:n.-265_-241del