Canonical Allele Identifier: CA2573157237

Gene: RTEL1-TNFRSF6B RTEL1

Linked Data

• ClinVar Variation Id: 1453392
• ClinVar RCV Id: RCV002002383
• dbSNP Id: rs2145480909
• gnomAD v4: 20-63695602-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63695603_63695604del , CM000682.2:g.63695603_63695604del	GRCh38
NC_000020.10:g.62326956_62326957del , CM000682.1:g.62326956_62326957del	GRCh37
NC_000020.9:g.61797400_61797401del	NCBI36
NG_033901.1:g.42794_42795del
NG_046961.1:g.3953_3954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697815.1:n.2522_2523del (RTEL1-TNFRSF6B)
ENST00000508582.7:c.3724+123_3724+124del (RTEL1)	ENSP00000424307.2:n.3724+123_3724+124del
ENST00000318100.9:c.2983+123_2983+124del (RTEL1)	ENSP00000322287.5:n.2983+123_2983+124del
ENST00000360203.11:c.3775_3776del (RTEL1) MANE Select	ENSP00000353332.5:p.Ala1259LeufsTer2
ENST00000496281.2:n.3786_3787del (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2983+123_2983+124del (RTEL1)	ENSP00000322287.5:n.2983+123_2983+124del
ENST00000360203.9:c.3775_3776del (RTEL1)	ENSP00000353332.5:p.Ala1259LeufsTer2
ENST00000370003.2:c.1510_1511del (RTEL1)	ENSP00000359020.1:p.Ala504LeufsTer2
ENST00000370018.7:c.3652+123_3652+124del (RTEL1)	ENSP00000359035.3:n.3652+123_3652+124del
ENST00000480273.5:n.3737+123_3737+124del (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3775_3776del (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Ala1259LeufsTer2
ENST00000492259.6:c.*1254+123_*1254+124del (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*1254+123_*1254+124del
ENST00000496281.1:n.3257_3258del (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1707_1708del (RTEL1)	ENSP00000425576.1:n.1707_1708del
ENST00000508582.6:c.3724+123_3724+124del (RTEL1)	ENSP00000424307.2:n.3724+123_3724+124del
NM_001283009.1:c.3775_3776del (RTEL1)	NP_001269938.1:p.Ala1259LeufsTer2
NM_001283010.1:c.2983+123_2983+124del (RTEL1)	NP_001269939.1:n.2983+123_2983+124del
NM_016434.3:c.3652+123_3652+124del (RTEL1)	NP_057518.1:n.3652+123_3652+124del
NM_032957.4:c.3724+123_3724+124del (RTEL1)	NP_116575.3:n.3724+123_3724+124del
NR_037882.1:n.4602_4603del (RTEL1-TNFRSF6B)
NM_001283009.2:c.3775_3776del (RTEL1) MANE Select	NP_001269938.1:p.Ala1259LeufsTer2
NM_016434.4:c.3652+123_3652+124del (RTEL1)	NP_057518.1:n.3652+123_3652+124del
NM_032957.5:c.3724+123_3724+124del (RTEL1)	NP_116575.3:n.3724+123_3724+124del