Canonical Allele Identifier: CA2653853808

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• gnomAD v4: 20-63672642-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672642T>C , CM000682.2:g.63672642T>C	GRCh38
NC_000020.10:g.62303995T>C , CM000682.1:g.62303995T>C	GRCh37
NC_000020.9:g.61774439T>C	NCBI36
NG_033901.1:g.19833T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.439+21T>C (RTEL1)
ENST00000425905.6:c.439+21T>C (RTEL1)
ENST00000508582.7:c.837+21T>C (RTEL1)	ENSP00000424307.2:n.837+21T>C
ENST00000684971.1:n.1196+21T>C (RTEL1)
ENST00000686756.1:n.1083+21T>C (RTEL1)
ENST00000687123.1:n.595+21T>C (RTEL1)
ENST00000692658.1:n.1203+21T>C (RTEL1)
ENST00000692911.1:n.1492+21T>C (RTEL1)
ENST00000318100.9:c.96+21T>C (RTEL1)	ENSP00000322287.5:n.96+21T>C
ENST00000360203.11:c.765+21T>C (RTEL1) MANE Select	ENSP00000353332.5:n.765+21T>C
ENST00000482936.6:c.765+21T>C (RTEL1)	ENSP00000457868.2:n.765+21T>C
ENST00000318100.8:c.96+21T>C (RTEL1)	ENSP00000322287.5:n.96+21T>C
ENST00000356810.5:c.915+21T>C (RTEL1)	ENSP00000349265.4:n.915+21T>C
ENST00000360203.9:c.765+21T>C (RTEL1)	ENSP00000353332.5:n.765+21T>C
ENST00000370018.7:c.765+21T>C (RTEL1)	ENSP00000359035.3:n.765+21T>C
ENST00000463361.1:n.462+21T>C (RTEL1)
ENST00000482936.5:c.765+21T>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.765+21T>C
ENST00000492259.6:c.765+21T>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.765+21T>C
ENST00000508582.6:c.837+21T>C (RTEL1)	ENSP00000424307.2:n.837+21T>C
NM_001283009.1:c.765+21T>C (RTEL1)	NP_001269938.1:n.765+21T>C
NM_001283010.1:c.96+21T>C (RTEL1)	NP_001269939.1:n.96+21T>C
NM_016434.3:c.765+21T>C (RTEL1)	NP_057518.1:n.765+21T>C
NM_032957.4:c.837+21T>C (RTEL1)	NP_116575.3:n.837+21T>C
NR_037882.1:n.1592+21T>C (RTEL1-TNFRSF6B)
NM_001283009.2:c.765+21T>C (RTEL1) MANE Select	NP_001269938.1:n.765+21T>C
NM_016434.4:c.765+21T>C (RTEL1)	NP_057518.1:n.765+21T>C
NM_032957.5:c.837+21T>C (RTEL1)	NP_116575.3:n.837+21T>C