Canonical Allele Identifier: CA409675859

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63685599T>G , CM000682.2:g.63685599T>G	GRCh38
NC_000020.10:g.62316952T>G , CM000682.1:g.62316952T>G	GRCh37
NC_000020.9:g.61787396T>G	NCBI36
NG_033901.1:g.32790T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.1266+2T>G (RTEL1) MANE Select	NP_001269938.1:n.1266+2T>G
ENST00000360203.11:c.1266+2T>G (RTEL1) MANE Select	ENSP00000353332.5:n.1266+2T>G
NM_001283009.1:c.1266+2T>G (RTEL1)	NP_001269938.1:n.1266+2T>G
NM_001283010.1:c.597+2T>G (RTEL1)	NP_001269939.1:n.597+2T>G
NM_016434.3:c.1266+2T>G (RTEL1)	NP_057518.1:n.1266+2T>G
NM_016434.4:c.1266+2T>G (RTEL1)	NP_057518.1:n.1266+2T>G
NM_032957.4:c.1338+2T>G (RTEL1)	NP_116575.3:n.1338+2T>G
NM_032957.5:c.1338+2T>G (RTEL1)	NP_116575.3:n.1338+2T>G
NR_037882.1:n.2093+2T>G (RTEL1-TNFRSF6B)
ENST00000318100.8:c.597+2T>G (RTEL1)	ENSP00000322287.5:n.597+2T>G
ENST00000318100.9:c.597+2T>G (RTEL1)	ENSP00000322287.5:n.597+2T>G
ENST00000360203.9:c.1266+2T>G (RTEL1)	ENSP00000353332.5:n.1266+2T>G
ENST00000370018.7:c.1266+2T>G (RTEL1)	ENSP00000359035.3:n.1266+2T>G
ENST00000425905.6:c.940+2T>G (RTEL1)
ENST00000425905.7:n.940+2T>G (RTEL1)
ENST00000482936.5:c.1266+2T>G (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.1266+2T>G
ENST00000482936.6:c.1266+2T>G (RTEL1)	ENSP00000457868.2:n.1266+2T>G
ENST00000492259.6:c.1350+2T>G (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.1350+2T>G
ENST00000508582.6:c.1338+2T>G (RTEL1)	ENSP00000424307.2:n.1338+2T>G
ENST00000508582.7:c.1338+2T>G (RTEL1)	ENSP00000424307.2:n.1338+2T>G
ENST00000647249.1:n.197+2T>G (RTEL1)
ENST00000687123.1:n.1096+2T>G (RTEL1)