Canonical Allele Identifier: CA916083772
Community Standard Title: NC_000020.11:g.63685600_63685677del
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63685600_63685677del , CM000682.2:g.63685600_63685677del GRCh38
NC_000020.10:g.62316953_62317030del , CM000682.1:g.62316953_62317030del GRCh37
NC_000020.9:g.61787397_61787474del NCBI36
NG_033901.1:g.32791_32868del

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.1:c.1266+3_1266+80del (RTEL1)
NM_001283009.2:c.1266+3_1266+80del (RTEL1)
NM_001283010.1:c.597+3_597+80del (RTEL1)
NM_016434.3:c.1266+3_1266+80del (RTEL1)
NM_016434.4:c.1266+3_1266+80del (RTEL1)
NM_032957.4:c.1338+3_1338+80del (RTEL1)
NM_032957.5:c.1338+3_1338+80del (RTEL1)
NR_037882.1:n.2093+3_2093+80del (RTEL1-TNFRSF6B)
ENST00000318100.8:c.597+3_597+80del (RTEL1)
ENST00000318100.9:c.597+3_597+80del (RTEL1)
ENST00000360203.11:c.1266+3_1266+80del (RTEL1)
ENST00000360203.9:c.1266+3_1266+80del (RTEL1)
ENST00000370018.7:c.1266+3_1266+80del (RTEL1)
ENST00000425905.6:c.940+3_940+80del (RTEL1)
ENST00000425905.7:n.940+3_940+80del (RTEL1)
ENST00000482936.5:c.1266+3_1266+80del (RTEL1-TNFRSF6B)
ENST00000482936.6:c.1266+3_1266+80del (RTEL1)
ENST00000492259.6:c.1350+3_1350+80del (RTEL1-TNFRSF6B)
ENST00000508582.6:c.1338+3_1338+80del (RTEL1)
ENST00000508582.7:c.1338+3_1338+80del (RTEL1)
ENST00000647249.1:n.197+3_197+80del (RTEL1)
ENST00000687123.1:n.1096+3_1096+80del (RTEL1)