Canonical Allele Identifier: CA317528960
Community Standard Title: NM_001283009.2(RTEL1):c.3344-2A>G
Gene: RTEL1-TNFRSF6B HGNC NCBI
RTEL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63695064A>G , CM000682.2:g.63695064A>G GRCh38
NC_000020.10:g.62326417A>G , CM000682.1:g.62326417A>G GRCh37
NC_000020.9:g.61796861A>G NCBI36
NG_033901.1:g.42255A>G
NG_046961.1:g.3414A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.3344-2A>G (RTEL1) MANE Select NP_001269938.1:n.3344-2A>G
ENST00000360203.11:c.3344-2A>G (RTEL1) MANE Select ENSP00000353332.5:n.3344-2A>G
NM_001283009.1:c.3344-2A>G (RTEL1) NP_001269938.1:n.3344-2A>G
NM_001283010.1:c.2675-2A>G (RTEL1) NP_001269939.1:n.2675-2A>G
NM_016434.3:c.3344-2A>G (RTEL1) NP_057518.1:n.3344-2A>G
NM_016434.4:c.3344-2A>G (RTEL1) NP_057518.1:n.3344-2A>G
NM_032957.4:c.3416-2A>G (RTEL1) NP_116575.3:n.3416-2A>G
NM_032957.5:c.3416-2A>G (RTEL1) NP_116575.3:n.3416-2A>G
NR_037882.1:n.4171-2A>G (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2675-2A>G (RTEL1) ENSP00000322287.5:n.2675-2A>G
ENST00000318100.9:c.2675-2A>G (RTEL1) ENSP00000322287.5:n.2675-2A>G
ENST00000360203.9:c.3344-2A>G (RTEL1) ENSP00000353332.5:n.3344-2A>G
ENST00000370003.2:c.1079-2A>G (RTEL1) ENSP00000359020.1:n.1079-2A>G
ENST00000370018.7:c.3344-2A>G (RTEL1) ENSP00000359035.3:n.3344-2A>G
ENST00000480273.5:n.3429-2A>G (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3344-2A>G (RTEL1-TNFRSF6B) ENSP00000457868.1:n.3344-2A>G
ENST00000492259.6:c.*946-2A>G (RTEL1-TNFRSF6B) ENSP00000457428.1:n.*946-2A>G
ENST00000496281.1:n.2826-2A>G (RTEL1-TNFRSF6B)
ENST00000496281.2:n.3355-2A>G (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1276-2A>G (RTEL1) ENSP00000425576.1:n.1276-2A>G
ENST00000508582.6:c.3416-2A>G (RTEL1) ENSP00000424307.2:n.3416-2A>G
ENST00000508582.7:c.3416-2A>G (RTEL1) ENSP00000424307.2:n.3416-2A>G
ENST00000697815.1:n.2091-2A>G (RTEL1-TNFRSF6B)