Canonical Allele Identifier: CA409678971
Community Standard Title: NM_001283009.2(RTEL1):c.2026-2A>G
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63689748A>G , CM000682.2:g.63689748A>G GRCh38
NC_000020.10:g.62321101A>G , CM000682.1:g.62321101A>G GRCh37
NC_000020.9:g.61791545A>G NCBI36
NG_033901.1:g.36939A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.2026-2A>G (RTEL1) MANE Select NP_001269938.1:n.2026-2A>G
ENST00000360203.11:c.2026-2A>G (RTEL1) MANE Select ENSP00000353332.5:n.2026-2A>G
NM_001283009.1:c.2026-2A>G (RTEL1) NP_001269938.1:n.2026-2A>G
NM_001283010.1:c.1357-2A>G (RTEL1) NP_001269939.1:n.1357-2A>G
NM_016434.3:c.2026-2A>G (RTEL1) NP_057518.1:n.2026-2A>G
NM_016434.4:c.2026-2A>G (RTEL1) NP_057518.1:n.2026-2A>G
NM_032957.4:c.2098-2A>G (RTEL1) NP_116575.3:n.2098-2A>G
NM_032957.5:c.2098-2A>G (RTEL1) NP_116575.3:n.2098-2A>G
NR_037882.1:n.2853-2A>G (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1357-2A>G (RTEL1) ENSP00000322287.5:n.1357-2A>G
ENST00000318100.9:c.1357-2A>G (RTEL1) ENSP00000322287.5:n.1357-2A>G
ENST00000360203.9:c.2026-2A>G (RTEL1) ENSP00000353332.5:n.2026-2A>G
ENST00000370018.7:c.2026-2A>G (RTEL1) ENSP00000359035.3:n.2026-2A>G
ENST00000425905.5:c.205-2A>G (RTEL1) ENSP00000388063.1:n.205-2A>G
ENST00000425905.6:c.1553-2A>G (RTEL1)
ENST00000425905.7:n.1553-2A>G (RTEL1)
ENST00000480273.5:n.2111-2A>G (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2026-2A>G (RTEL1-TNFRSF6B) ENSP00000457868.1:n.2026-2A>G
ENST00000482936.6:c.2026-2A>G (RTEL1) ENSP00000457868.2:n.2026-2A>G
ENST00000492259.6:c.2110-2A>G (RTEL1-TNFRSF6B) ENSP00000457428.1:n.2110-2A>G
ENST00000496281.1:n.320-2A>G (RTEL1-TNFRSF6B)
ENST00000496281.2:n.849-2A>G (RTEL1-TNFRSF6B)
ENST00000508582.6:c.2098-2A>G (RTEL1) ENSP00000424307.2:n.2098-2A>G
ENST00000508582.7:c.2098-2A>G (RTEL1) ENSP00000424307.2:n.2098-2A>G
ENST00000687123.1:n.1709-2A>G (RTEL1)
ENST00000697814.1:n.216-2A>G (RTEL1)