Canonical Allele Identifier: CA2675215595

Gene: RAD50

Linked Data

• gnomAD v4: 5-132557019-C-CAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557019_132557020insAAAAA , CM000667.2:g.132557019_132557020insAAAAA	GRCh38
NC_000005.9:g.131892711_131892712insAAAAA , CM000667.1:g.131892711_131892712insAAAAA	GRCh37
NC_000005.8:g.131920610_131920611insAAAAA	NCBI36
NG_021151.1:g.5096_5097insAAAAA
NG_021151.2:g.5043_5044insAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-306_-305insAAAAA MANE Select	ENSP00000368100.4:n.-306_-305insAAAAA
ENST00000638452.2:c.-168-2265_-168-2264insAAAAA	ENSP00000492349.2:n.-168-2265_-168-2264insAAAAA
ENST00000638504.1:n.207-2265_207-2264insAAAAA
ENST00000638568.2:c.-169+546_-169+547insAAAAA	ENSP00000491158.2:n.-169+546_-169+547insAAAAA
ENST00000639899.1:n.290-2265_290-2264insAAAAA
ENST00000640655.2:c.-168-2265_-168-2264insAAAAA	ENSP00000491596.2:n.-168-2265_-168-2264insAAAAA
ENST00000651160.1:c.-306_-305insAAAAA	ENSP00000498829.1:n.-306_-305insAAAAA
ENST00000651541.1:c.-169+10_-169+11insAAAAA	ENSP00000498795.1:n.-169+10_-169+11insAAAAA
ENST00000652016.1:c.-306_-305insAAAAA	ENSP00000498267.1:n.-306_-305insAAAAA
ENST00000652485.1:c.-306_-305insAAAAA	ENSP00000498973.1:n.-306_-305insAAAAA
ENST00000378823.7:c.-306_-305insAAAAA	ENSP00000368100.4:n.-306_-305insAAAAA
ENST00000416135.5:c.-169+546_-169+547insAAAAA	ENSP00000389515.1:n.-169+546_-169+547insAAAAA
ENST00000533482.5:c.-306_-305insAAAAA	ENSP00000431225.1:n.-306_-305insAAAAA
NM_005732.3:c.-306_-305insAAAAA	NP_005723.2:n.-306_-305insAAAAA
NM_005732.4:c.-306_-305insAAAAA MANE Select	NP_005723.2:n.-306_-305insAAAAA