Canonical Allele Identifier: CA2374925061
Community Standard Title: NM_001283009.2(RTEL1):c.1038-74T=
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63679775T= , CM000682.2:g.63679775T= GRCh38
NC_000020.10:g.62311128T= , CM000682.1:g.62311128T= GRCh37
NC_000020.9:g.61781572T= NCBI36
NG_033901.1:g.26966T=

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.1038-74T= (RTEL1) MANE Select NP_001269938.1:n.1038-74T=
ENST00000360203.11:c.1038-74T= (RTEL1) MANE Select ENSP00000353332.5:n.1038-74T=
NM_001283009.1:c.1038-74T= (RTEL1) NP_001269938.1:n.1038-74T=
NM_001283010.1:c.369-74T= (RTEL1) NP_001269939.1:n.369-74T=
NM_016434.3:c.1038-74T= (RTEL1) NP_057518.1:n.1038-74T=
NM_016434.4:c.1038-74T= (RTEL1) NP_057518.1:n.1038-74T=
NM_032957.4:c.1110-74T= (RTEL1) NP_116575.3:n.1110-74T=
NM_032957.5:c.1110-74T= (RTEL1) NP_116575.3:n.1110-74T=
NR_037882.1:n.1865-74T= (RTEL1-TNFRSF6B)
ENST00000318100.8:c.369-74T= (RTEL1) ENSP00000322287.5:n.369-74T=
ENST00000318100.9:c.369-74T= (RTEL1) ENSP00000322287.5:n.369-74T=
ENST00000360203.9:c.1038-74T= (RTEL1) ENSP00000353332.5:n.1038-74T=
ENST00000370018.7:c.1038-74T= (RTEL1) ENSP00000359035.3:n.1038-74T=
ENST00000425905.6:c.712-74T= (RTEL1)
ENST00000425905.7:n.712-74T= (RTEL1)
ENST00000482936.5:c.1038-74T= (RTEL1-TNFRSF6B) ENSP00000457868.1:n.1038-74T=
ENST00000482936.6:c.1038-74T= (RTEL1) ENSP00000457868.2:n.1038-74T=
ENST00000492259.6:c.1122-74T= (RTEL1-TNFRSF6B) ENSP00000457428.1:n.1122-74T=
ENST00000508582.6:c.1110-74T= (RTEL1) ENSP00000424307.2:n.1110-74T=
ENST00000508582.7:c.1110-74T= (RTEL1) ENSP00000424307.2:n.1110-74T=
ENST00000684971.1:n.1469-74T= (RTEL1)
ENST00000687123.1:n.868-74T= (RTEL1)