Canonical Allele Identifier: CA2653853459

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• gnomAD v4: 20-63672422-C-CTCTGCTCTCGACATCGCCGGCGCTGTTGCTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672428_63672459dup , CM000682.2:g.63672428_63672459dup	GRCh38
NC_000020.10:g.62303781_62303812dup , CM000682.1:g.62303781_62303812dup	GRCh37
NC_000020.9:g.61774225_61774256dup	NCBI36
NG_033901.1:g.19619_19650dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.374-128_374-97dup (RTEL1)
ENST00000425905.6:c.374-128_374-97dup (RTEL1)
ENST00000508582.7:c.772-128_772-97dup (RTEL1)	ENSP00000424307.2:n.772-128_772-97dup
ENST00000684971.1:n.1131-128_1131-97dup (RTEL1)
ENST00000686756.1:n.1018-128_1018-97dup (RTEL1)
ENST00000687123.1:n.530-128_530-97dup (RTEL1)
ENST00000692658.1:n.1138-128_1138-97dup (RTEL1)
ENST00000692911.1:n.1427-128_1427-97dup (RTEL1)
ENST00000318100.9:c.31-128_31-97dup (RTEL1)	ENSP00000322287.5:n.31-128_31-97dup
ENST00000360203.11:c.700-128_700-97dup (RTEL1) MANE Select	ENSP00000353332.5:n.700-128_700-97dup
ENST00000482936.6:c.700-128_700-97dup (RTEL1)	ENSP00000457868.2:n.700-128_700-97dup
ENST00000318100.8:c.31-128_31-97dup (RTEL1)	ENSP00000322287.5:n.31-128_31-97dup
ENST00000356810.5:c.850-128_850-97dup (RTEL1)	ENSP00000349265.4:n.850-128_850-97dup
ENST00000360203.9:c.700-128_700-97dup (RTEL1)	ENSP00000353332.5:n.700-128_700-97dup
ENST00000370018.7:c.700-128_700-97dup (RTEL1)	ENSP00000359035.3:n.700-128_700-97dup
ENST00000463361.1:n.397-128_397-97dup (RTEL1)
ENST00000482936.5:c.700-128_700-97dup (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.700-128_700-97dup
ENST00000492259.6:c.700-128_700-97dup (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.700-128_700-97dup
ENST00000508582.6:c.772-128_772-97dup (RTEL1)	ENSP00000424307.2:n.772-128_772-97dup
NM_001283009.1:c.700-128_700-97dup (RTEL1)	NP_001269938.1:n.700-128_700-97dup
NM_001283010.1:c.31-128_31-97dup (RTEL1)	NP_001269939.1:n.31-128_31-97dup
NM_016434.3:c.700-128_700-97dup (RTEL1)	NP_057518.1:n.700-128_700-97dup
NM_032957.4:c.772-128_772-97dup (RTEL1)	NP_116575.3:n.772-128_772-97dup
NR_037882.1:n.1527-128_1527-97dup (RTEL1-TNFRSF6B)
NM_001283009.2:c.700-128_700-97dup (RTEL1) MANE Select	NP_001269938.1:n.700-128_700-97dup
NM_016434.4:c.700-128_700-97dup (RTEL1)	NP_057518.1:n.700-128_700-97dup
NM_032957.5:c.772-128_772-97dup (RTEL1)	NP_116575.3:n.772-128_772-97dup