Canonical Allele Identifier: CA9964258
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63662608_63662609del , CM000682.2:g.63662608_63662609del GRCh38
NC_000020.10:g.62293961_62293962del , CM000682.1:g.62293961_62293962del GRCh37
NC_000020.9:g.61764405_61764406del NCBI36
NG_033901.1:g.9799_9800del

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.458_459del (RTEL1) MANE Select NP_001269938.1:p.Gln153ArgfsTer3
ENST00000360203.11:c.458_459del (RTEL1) MANE Select ENSP00000353332.5:p.Gln153ArgfsTer3
NM_001283009.1:c.458_459del (RTEL1) NP_001269938.1:p.Gln153ArgfsTer3
NM_001283010.1:c.-212_-211del (RTEL1) NP_001269939.1:n.-212_-211del
NM_016434.3:c.458_459del (RTEL1) NP_057518.1:p.Gln153ArgfsTer3
NM_016434.4:c.458_459del (RTEL1) NP_057518.1:p.Gln153ArgfsTer3
NM_032957.4:c.530_531del (RTEL1) NP_116575.3:p.Gln177ArgfsTer3
NM_032957.5:c.530_531del (RTEL1) NP_116575.3:p.Gln177ArgfsTer3
NR_037882.1:n.1285_1286del (RTEL1-TNFRSF6B)
ENST00000318100.8:c.-212_-211del (RTEL1) ENSP00000322287.5:n.-212_-211del
ENST00000318100.9:c.-212_-211del (RTEL1) ENSP00000322287.5:n.-212_-211del
ENST00000356810.5:c.608_609del (RTEL1) ENSP00000349265.4:p.Gln203ArgfsTer3
ENST00000360203.9:c.458_459del (RTEL1) ENSP00000353332.5:p.Gln153ArgfsTer3
ENST00000370018.7:c.458_459del (RTEL1) ENSP00000359035.3:p.Gln153ArgfsTer3
ENST00000425905.6:c.132_133del (RTEL1)
ENST00000425905.7:n.132_133del (RTEL1)
ENST00000482936.5:c.458_459del (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Gln153ArgfsTer3
ENST00000482936.6:c.458_459del (RTEL1) ENSP00000457868.2:p.Gln153ArgfsTer3
ENST00000492259.6:c.458_459del (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Gln153ArgfsTer3
ENST00000508582.6:c.530_531del (RTEL1) ENSP00000424307.2:p.Gln177ArgfsTer3
ENST00000508582.7:c.530_531del (RTEL1) ENSP00000424307.2:p.Gln177ArgfsTer3
ENST00000645309.1:n.155_156del (RTEL1)
ENST00000684971.1:n.889_890del (RTEL1)
ENST00000686756.1:n.776_777del (RTEL1)
ENST00000687123.1:n.288_289del (RTEL1)
ENST00000692658.1:n.896_897del (RTEL1)
ENST00000692911.1:n.1185_1186del (RTEL1)