Canonical Allele Identifier: CA277775
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63678185dup , CM000682.2:g.63678185dup GRCh38
NC_000020.10:g.62309538dup , CM000682.1:g.62309538dup GRCh37
NC_000020.9:g.61779982dup NCBI36
NG_033901.1:g.25376dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000425905.7:n.632+2dup (RTEL1)
ENST00000425905.6:c.632+2dup (RTEL1)
ENST00000508582.7:c.1030+2dup (RTEL1) ENSP00000424307.2:n.1030+2dup
ENST00000684971.1:n.1389+2dup (RTEL1)
ENST00000686756.1:n.1276+2dup (RTEL1)
ENST00000687123.1:n.788+2dup (RTEL1)
ENST00000692658.1:n.1396+2dup (RTEL1)
ENST00000318100.9:c.289+2dup (RTEL1) ENSP00000322287.5:n.289+2dup
ENST00000360203.11:c.958+2dup (RTEL1) MANE Select ENSP00000353332.5:n.958+2dup
ENST00000482936.6:c.958+2dup (RTEL1) ENSP00000457868.2:n.958+2dup
ENST00000318100.8:c.289+2dup (RTEL1) ENSP00000322287.5:n.289+2dup
ENST00000360203.9:c.958+2dup (RTEL1) ENSP00000353332.5:n.958+2dup
ENST00000370018.7:c.958+2dup (RTEL1) ENSP00000359035.3:n.958+2dup
ENST00000482936.5:c.958+2dup (RTEL1-TNFRSF6B) ENSP00000457868.1:n.958+2dup
ENST00000492259.6:c.960dup (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Lys321Ter
ENST00000508582.6:c.1030+2dup (RTEL1) ENSP00000424307.2:n.1030+2dup
NM_001283009.1:c.958+2dup (RTEL1) NP_001269938.1:n.958+2dup
NM_001283010.1:c.289+2dup (RTEL1) NP_001269939.1:n.289+2dup
NM_016434.3:c.958+2dup (RTEL1) NP_057518.1:n.958+2dup
NM_032957.4:c.1030+2dup (RTEL1) NP_116575.3:n.1030+2dup
NR_037882.1:n.1785+2dup (RTEL1-TNFRSF6B)
NM_001283009.2:c.958+2dup (RTEL1) MANE Select NP_001269938.1:n.958+2dup
NM_016434.4:c.958+2dup (RTEL1) NP_057518.1:n.958+2dup
NM_032957.5:c.1030+2dup (RTEL1) NP_116575.3:n.1030+2dup
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