Canonical Allele Identifier: CA2374925613
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63680847_63680848delinsAT , CM000682.2:g.63680847_63680848delinsAT GRCh38
NC_000020.10:g.62312200_62312201delinsAT , CM000682.1:g.62312200_62312201delinsAT GRCh37
NC_000020.9:g.61782644_61782645delinsAT NCBI36
NG_033901.1:g.28038_28039delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000425905.7:n.865+128_865+129delinsAT (RTEL1)
ENST00000425905.6:c.865+128_865+129delinsAT (RTEL1)
ENST00000508582.7:c.1263+128_1263+129delinsAT (RTEL1) ENSP00000424307.2:n.1263+128_1263+129delinsAT
ENST00000687123.1:n.1021+128_1021+129delinsAT (RTEL1)
ENST00000318100.9:c.522+128_522+129delinsAT (RTEL1) ENSP00000322287.5:n.522+128_522+129delinsAT
ENST00000360203.11:c.1191+128_1191+129delinsAT (RTEL1) MANE Select ENSP00000353332.5:n.1191+128_1191+129delinsAT
ENST00000482936.6:c.1191+128_1191+129delinsAT (RTEL1) ENSP00000457868.2:n.1191+128_1191+129delinsAT
ENST00000318100.8:c.522+128_522+129delinsAT (RTEL1) ENSP00000322287.5:n.522+128_522+129delinsAT
ENST00000360203.9:c.1191+128_1191+129delinsAT (RTEL1) ENSP00000353332.5:n.1191+128_1191+129delinsAT
ENST00000370018.7:c.1191+128_1191+129delinsAT (RTEL1) ENSP00000359035.3:n.1191+128_1191+129delinsAT
ENST00000482936.5:c.1191+128_1191+129delinsAT (RTEL1-TNFRSF6B) ENSP00000457868.1:n.1191+128_1191+129delinsAT
ENST00000492259.6:c.1275+128_1275+129delinsAT (RTEL1-TNFRSF6B) ENSP00000457428.1:n.1275+128_1275+129delinsAT
ENST00000508582.6:c.1263+128_1263+129delinsAT (RTEL1) ENSP00000424307.2:n.1263+128_1263+129delinsAT
NM_001283009.1:c.1191+128_1191+129delinsAT (RTEL1) NP_001269938.1:n.1191+128_1191+129delinsAT
NM_001283010.1:c.522+128_522+129delinsAT (RTEL1) NP_001269939.1:n.522+128_522+129delinsAT
NM_016434.3:c.1191+128_1191+129delinsAT (RTEL1) NP_057518.1:n.1191+128_1191+129delinsAT
NM_032957.4:c.1263+128_1263+129delinsAT (RTEL1) NP_116575.3:n.1263+128_1263+129delinsAT
NR_037882.1:n.2018+128_2018+129delinsAT (RTEL1-TNFRSF6B)
NM_001283009.2:c.1191+128_1191+129delinsAT (RTEL1) MANE Select NP_001269938.1:n.1191+128_1191+129delinsAT
NM_016434.4:c.1191+128_1191+129delinsAT (RTEL1) NP_057518.1:n.1191+128_1191+129delinsAT
NM_032957.5:c.1263+128_1263+129delinsAT (RTEL1) NP_116575.3:n.1263+128_1263+129delinsAT