Canonical Allele Identifier: CA409683437

Gene: RTEL1-TNFRSF6B RTEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63693285T>A , CM000682.2:g.63693285T>A	GRCh38
NC_000020.10:g.62324638T>A , CM000682.1:g.62324638T>A	GRCh37
NC_000020.9:g.61795082T>A	NCBI36
NG_033901.1:g.40476T>A
NG_046961.1:g.1635T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.2992+2T>A (RTEL1) MANE Select	NP_001269938.1:n.2992+2T>A
ENST00000360203.11:c.2992+2T>A (RTEL1) MANE Select	ENSP00000353332.5:n.2992+2T>A
NM_001283009.1:c.2992+2T>A (RTEL1)	NP_001269938.1:n.2992+2T>A
NM_001283010.1:c.2323+2T>A (RTEL1)	NP_001269939.1:n.2323+2T>A
NM_016434.3:c.2992+2T>A (RTEL1)	NP_057518.1:n.2992+2T>A
NM_016434.4:c.2992+2T>A (RTEL1)	NP_057518.1:n.2992+2T>A
NM_032957.4:c.3064+2T>A (RTEL1)	NP_116575.3:n.3064+2T>A
NM_032957.5:c.3064+2T>A (RTEL1)	NP_116575.3:n.3064+2T>A
NR_037882.1:n.3819+2T>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2323+2T>A (RTEL1)	ENSP00000322287.5:n.2323+2T>A
ENST00000318100.9:c.2323+2T>A (RTEL1)	ENSP00000322287.5:n.2323+2T>A
ENST00000360203.9:c.2992+2T>A (RTEL1)	ENSP00000353332.5:n.2992+2T>A
ENST00000370003.2:c.727+2T>A (RTEL1)	ENSP00000359020.1:n.727+2T>A
ENST00000370018.7:c.2992+2T>A (RTEL1)	ENSP00000359035.3:n.2992+2T>A
ENST00000480273.5:n.3077+2T>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2992+2T>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.2992+2T>A
ENST00000482936.6:c.2992+2T>A (RTEL1)	ENSP00000457868.2:n.2992+2T>A
ENST00000492259.6:c.*594+2T>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*594+2T>A
ENST00000496281.1:n.2474+2T>A (RTEL1-TNFRSF6B)
ENST00000496281.2:n.3003+2T>A (RTEL1-TNFRSF6B)
ENST00000496816.5:c.871+2T>A (RTEL1)	ENSP00000425576.1:n.871+2T>A
ENST00000508582.6:c.3064+2T>A (RTEL1)	ENSP00000424307.2:n.3064+2T>A
ENST00000508582.7:c.3064+2T>A (RTEL1)	ENSP00000424307.2:n.3064+2T>A
ENST00000697815.1:n.1739+2T>A (RTEL1-TNFRSF6B)