Canonical Allele Identifier: CA278915
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63666067del , CM000682.2:g.63666067del GRCh38
NC_000020.10:g.62297420del , CM000682.1:g.62297420del GRCh37
NC_000020.9:g.61767864del NCBI36
NG_033901.1:g.13258del

Transcript Alleles

HGVS Amino-acid Change
ENST00000425905.7:n.276del (RTEL1)
ENST00000425905.6:c.276del (RTEL1)
ENST00000508582.7:c.674del (RTEL1) ENSP00000424307.2:p.Gly225GlufsTer15
ENST00000684971.1:n.1033del (RTEL1)
ENST00000686756.1:n.920del (RTEL1)
ENST00000687123.1:n.432del (RTEL1)
ENST00000692658.1:n.1040del (RTEL1)
ENST00000692911.1:n.1329del (RTEL1)
ENST00000318100.9:c.-68del (RTEL1) ENSP00000322287.5:n.-68del
ENST00000360203.11:c.602del (RTEL1) MANE Select ENSP00000353332.5:p.Gly201GlufsTer15
ENST00000482936.6:c.602del (RTEL1) ENSP00000457868.2:p.Gly201GlufsTer15
ENST00000318100.8:c.-68del (RTEL1) ENSP00000322287.5:n.-68del
ENST00000356810.5:c.752del (RTEL1) ENSP00000349265.4:p.Gly251GlufsTer15
ENST00000360203.9:c.602del (RTEL1) ENSP00000353332.5:p.Gly201GlufsTer15
ENST00000370018.7:c.602del (RTEL1) ENSP00000359035.3:p.Gly201GlufsTer15
ENST00000463361.1:n.299del (RTEL1)
ENST00000482936.5:c.602del (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Gly201GlufsTer15
ENST00000492259.6:c.602del (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Gly201GlufsTer15
ENST00000508582.6:c.674del (RTEL1) ENSP00000424307.2:p.Gly225GlufsTer15
NM_001283009.1:c.602del (RTEL1) NP_001269938.1:p.Gly201GlufsTer15
NM_001283010.1:c.-68del (RTEL1) NP_001269939.1:n.-68del
NM_016434.3:c.602del (RTEL1) NP_057518.1:p.Gly201GlufsTer15
NM_032957.4:c.674del (RTEL1) NP_116575.3:p.Gly225GlufsTer15
NR_037882.1:n.1429del (RTEL1-TNFRSF6B)
NM_001283009.2:c.602del (RTEL1) MANE Select NP_001269938.1:p.Gly201GlufsTer15
NM_016434.4:c.602del (RTEL1) NP_057518.1:p.Gly201GlufsTer15
NM_032957.5:c.674del (RTEL1) NP_116575.3:p.Gly225GlufsTer15