Canonical Allele Identifier: CA2374920809
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63672579C= , CM000682.2:g.63672579C= GRCh38
NC_000020.10:g.62303932C= , CM000682.1:g.62303932C= GRCh37
NC_000020.9:g.61774376C= NCBI36
NG_033901.1:g.19770C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000425905.7:n.397C= (RTEL1)
ENST00000425905.6:c.397C= (RTEL1)
ENST00000508582.7:c.795C= (RTEL1) ENSP00000424307.2:p.Asp265=
ENST00000684971.1:n.1154C= (RTEL1)
ENST00000686756.1:n.1041C= (RTEL1)
ENST00000687123.1:n.553C= (RTEL1)
ENST00000692658.1:n.1161C= (RTEL1)
ENST00000692911.1:n.1450C= (RTEL1)
ENST00000318100.9:c.54C= (RTEL1) ENSP00000322287.5:p.Asp18=
ENST00000360203.11:c.723C= (RTEL1) MANE Select ENSP00000353332.5:p.Asp241=
ENST00000482936.6:c.723C= (RTEL1) ENSP00000457868.2:p.Asp241=
ENST00000318100.8:c.54C= (RTEL1) ENSP00000322287.5:p.Asp18=
ENST00000356810.5:c.873C= (RTEL1) ENSP00000349265.4:p.Asp291=
ENST00000360203.9:c.723C= (RTEL1) ENSP00000353332.5:p.Asp241=
ENST00000370018.7:c.723C= (RTEL1) ENSP00000359035.3:p.Asp241=
ENST00000463361.1:n.420C= (RTEL1)
ENST00000482936.5:c.723C= (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Asp241=
ENST00000492259.6:c.723C= (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Asp241=
ENST00000508582.6:c.795C= (RTEL1) ENSP00000424307.2:p.Asp265=
NM_001283009.1:c.723C= (RTEL1) NP_001269938.1:p.Asp241=
NM_001283010.1:c.54C= (RTEL1) NP_001269939.1:p.Asp18=
NM_016434.3:c.723C= (RTEL1) NP_057518.1:p.Asp241=
NM_032957.4:c.795C= (RTEL1) NP_116575.3:p.Asp265=
NR_037882.1:n.1550C= (RTEL1-TNFRSF6B)
NM_001283009.2:c.723C= (RTEL1) MANE Select NP_001269938.1:p.Asp241=
NM_016434.4:c.723C= (RTEL1) NP_057518.1:p.Asp241=
NM_032957.5:c.795C= (RTEL1) NP_116575.3:p.Asp265=