Canonical Allele Identifier: CA804005700

Gene: RAD50

Linked Data

• dbSNP Id: rs1221057897
• gnomAD v3: 5-132557139-TC-T
• gnomAD v4: 5-132557139-TC-T
• MyVariant Identifiers: chr5:g.131892832del (hg19) ; chr5:g.132557140del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557144del , CM000667.2:g.132557144del	GRCh38
NC_000005.9:g.131892836del , CM000667.1:g.131892836del	GRCh37
NC_000005.8:g.131920735del	NCBI36
NG_021151.1:g.5221del
NG_021151.2:g.5168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-181del MANE Select	ENSP00000368100.4:n.-181del
ENST00000638452.2:c.-168-2140del	ENSP00000492349.2:n.-168-2140del
ENST00000638504.1:n.207-2140del
ENST00000638568.2:c.-169+671del	ENSP00000491158.2:n.-169+671del
ENST00000639899.1:n.290-2140del
ENST00000640655.2:c.-168-2140del	ENSP00000491596.2:n.-168-2140del
ENST00000651160.1:c.-181del	ENSP00000498829.1:n.-181del
ENST00000651541.1:c.-169+135del	ENSP00000498795.1:n.-169+135del
ENST00000652016.1:c.-181del	ENSP00000498267.1:n.-181del
ENST00000652485.1:c.-181del	ENSP00000498973.1:n.-181del
ENST00000378823.7:c.-181del	ENSP00000368100.4:n.-181del
ENST00000416135.5:c.-169+671del	ENSP00000389515.1:n.-169+671del
ENST00000533482.5:c.-181del	ENSP00000431225.1:n.-181del
NM_005732.3:c.-181del	NP_005723.2:n.-181del
NM_005732.4:c.-181del MANE Select	NP_005723.2:n.-181del