Canonical Allele Identifier: CA15960957
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63669458G>T , CM000682.2:g.63669458G>T GRCh38
NC_000020.10:g.62300811G>T , CM000682.1:g.62300811G>T GRCh37
NC_000020.9:g.61771255G>T NCBI36
NG_033901.1:g.16649G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000425905.7:n.373+1905G>T (RTEL1)
ENST00000425905.6:c.373+1905G>T (RTEL1)
ENST00000508582.7:c.771+1905G>T (RTEL1) ENSP00000424307.2:n.771+1905G>T
ENST00000684971.1:n.1130+1905G>T (RTEL1)
ENST00000686756.1:n.1017+1905G>T (RTEL1)
ENST00000687123.1:n.529+1905G>T (RTEL1)
ENST00000692658.1:n.1137+1905G>T (RTEL1)
ENST00000692911.1:n.1426+1905G>T (RTEL1)
ENST00000318100.9:c.30+1905G>T (RTEL1) ENSP00000322287.5:n.30+1905G>T
ENST00000360203.11:c.699+1905G>T (RTEL1) MANE Select ENSP00000353332.5:n.699+1905G>T
ENST00000482936.6:c.699+1905G>T (RTEL1) ENSP00000457868.2:n.699+1905G>T
ENST00000318100.8:c.30+1905G>T (RTEL1) ENSP00000322287.5:n.30+1905G>T
ENST00000356810.5:c.849+1905G>T (RTEL1) ENSP00000349265.4:n.849+1905G>T
ENST00000360203.9:c.699+1905G>T (RTEL1) ENSP00000353332.5:n.699+1905G>T
ENST00000370018.7:c.699+1905G>T (RTEL1) ENSP00000359035.3:n.699+1905G>T
ENST00000463361.1:n.396+1905G>T (RTEL1)
ENST00000482936.5:c.699+1905G>T (RTEL1-TNFRSF6B) ENSP00000457868.1:n.699+1905G>T
ENST00000492259.6:c.699+1905G>T (RTEL1-TNFRSF6B) ENSP00000457428.1:n.699+1905G>T
ENST00000508582.6:c.771+1905G>T (RTEL1) ENSP00000424307.2:n.771+1905G>T
NM_001283009.1:c.699+1905G>T (RTEL1) NP_001269938.1:n.699+1905G>T
NM_001283010.1:c.30+1905G>T (RTEL1) NP_001269939.1:n.30+1905G>T
NM_016434.3:c.699+1905G>T (RTEL1) NP_057518.1:n.699+1905G>T
NM_032957.4:c.771+1905G>T (RTEL1) NP_116575.3:n.771+1905G>T
NR_037882.1:n.1526+1905G>T (RTEL1-TNFRSF6B)
NM_001283009.2:c.699+1905G>T (RTEL1) MANE Select NP_001269938.1:n.699+1905G>T
NM_016434.4:c.699+1905G>T (RTEL1) NP_057518.1:n.699+1905G>T
NM_032957.5:c.771+1905G>T (RTEL1) NP_116575.3:n.771+1905G>T
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