Canonical Allele Identifier: CA9965874

Gene: RTEL1-TNFRSF6B RTEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63694739A>C , CM000682.2:g.63694739A>C	GRCh38
NC_000020.10:g.62326092A>C , CM000682.1:g.62326092A>C	GRCh37
NC_000020.9:g.61796536A>C	NCBI36
NG_033901.1:g.41930A>C
NG_046961.1:g.3089A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.3110-2A>C (RTEL1) MANE Select	NP_001269938.1:n.3110-2A>C
ENST00000360203.11:c.3110-2A>C (RTEL1) MANE Select	ENSP00000353332.5:n.3110-2A>C
NM_001283009.1:c.3110-2A>C (RTEL1)	NP_001269938.1:n.3110-2A>C
NM_001283010.1:c.2441-2A>C (RTEL1)	NP_001269939.1:n.2441-2A>C
NM_016434.3:c.3110-2A>C (RTEL1)	NP_057518.1:n.3110-2A>C
NM_016434.4:c.3110-2A>C (RTEL1)	NP_057518.1:n.3110-2A>C
NM_032957.4:c.3182-2A>C (RTEL1)	NP_116575.3:n.3182-2A>C
NM_032957.5:c.3182-2A>C (RTEL1)	NP_116575.3:n.3182-2A>C
NR_037882.1:n.3937-2A>C (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2441-2A>C (RTEL1)	ENSP00000322287.5:n.2441-2A>C
ENST00000318100.9:c.2441-2A>C (RTEL1)	ENSP00000322287.5:n.2441-2A>C
ENST00000360203.9:c.3110-2A>C (RTEL1)	ENSP00000353332.5:n.3110-2A>C
ENST00000370003.2:c.845-2A>C (RTEL1)	ENSP00000359020.1:n.845-2A>C
ENST00000370018.7:c.3110-2A>C (RTEL1)	ENSP00000359035.3:n.3110-2A>C
ENST00000480273.5:n.3195-2A>C (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3110-2A>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.3110-2A>C
ENST00000482936.6:c.*91-2A>C (RTEL1)	ENSP00000457868.2:n.*91-2A>C
ENST00000492259.6:c.*712-2A>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*712-2A>C
ENST00000496281.1:n.2592-2A>C (RTEL1-TNFRSF6B)
ENST00000496281.2:n.3121-2A>C (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1042-2A>C (RTEL1)	ENSP00000425576.1:n.1042-2A>C
ENST00000508582.6:c.3182-2A>C (RTEL1)	ENSP00000424307.2:n.3182-2A>C
ENST00000508582.7:c.3182-2A>C (RTEL1)	ENSP00000424307.2:n.3182-2A>C
ENST00000697815.1:n.1857-2A>C (RTEL1-TNFRSF6B)