Canonical Allele Identifier: CA2374920358
Community Standard Title: NM_001283009.2(RTEL1):c.700-794C=
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63671762C= , CM000682.2:g.63671762C= GRCh38
NC_000020.10:g.62303115C= , CM000682.1:g.62303115C= GRCh37
NC_000020.9:g.61773559C= NCBI36
NG_033901.1:g.18953C=

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.700-794C= (RTEL1) MANE Select NP_001269938.1:n.700-794C=
ENST00000360203.11:c.700-794C= (RTEL1) MANE Select ENSP00000353332.5:n.700-794C=
NM_001283009.1:c.700-794C= (RTEL1) NP_001269938.1:n.700-794C=
NM_001283010.1:c.31-794C= (RTEL1) NP_001269939.1:n.31-794C=
NM_016434.3:c.700-794C= (RTEL1) NP_057518.1:n.700-794C=
NM_016434.4:c.700-794C= (RTEL1) NP_057518.1:n.700-794C=
NM_032957.4:c.772-794C= (RTEL1) NP_116575.3:n.772-794C=
NM_032957.5:c.772-794C= (RTEL1) NP_116575.3:n.772-794C=
NR_037882.1:n.1527-794C= (RTEL1-TNFRSF6B)
ENST00000318100.8:c.31-794C= (RTEL1) ENSP00000322287.5:n.31-794C=
ENST00000318100.9:c.31-794C= (RTEL1) ENSP00000322287.5:n.31-794C=
ENST00000356810.5:c.850-794C= (RTEL1) ENSP00000349265.4:n.850-794C=
ENST00000360203.9:c.700-794C= (RTEL1) ENSP00000353332.5:n.700-794C=
ENST00000370018.7:c.700-794C= (RTEL1) ENSP00000359035.3:n.700-794C=
ENST00000425905.6:c.374-794C= (RTEL1)
ENST00000425905.7:n.374-794C= (RTEL1)
ENST00000463361.1:n.397-794C= (RTEL1)
ENST00000482936.5:c.700-794C= (RTEL1-TNFRSF6B) ENSP00000457868.1:n.700-794C=
ENST00000482936.6:c.700-794C= (RTEL1) ENSP00000457868.2:n.700-794C=
ENST00000492259.6:c.700-794C= (RTEL1-TNFRSF6B) ENSP00000457428.1:n.700-794C=
ENST00000508582.6:c.772-794C= (RTEL1) ENSP00000424307.2:n.772-794C=
ENST00000508582.7:c.772-794C= (RTEL1) ENSP00000424307.2:n.772-794C=
ENST00000684971.1:n.1131-794C= (RTEL1)
ENST00000686756.1:n.1018-794C= (RTEL1)
ENST00000687123.1:n.530-794C= (RTEL1)
ENST00000692658.1:n.1138-794C= (RTEL1)
ENST00000692911.1:n.1427-794C= (RTEL1)