Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63690164_63690172del , CM000682.2:g.63690164_63690172del	GRCh38
NC_000020.10:g.62321517_62321525del , CM000682.1:g.62321517_62321525del	GRCh37
NC_000020.9:g.61791961_61791969del	NCBI36
NG_033901.1:g.37355_37363del

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.2219_2227del (RTEL1) MANE Select	NP_001269938.1:p.His740_Ile742del
ENST00000360203.11:c.2219_2227del (RTEL1) MANE Select	ENSP00000353332.5:p.His740_Ile742del
NM_001283009.1:c.2219_2227del (RTEL1)	NP_001269938.1:p.His740_Ile742del
NM_001283010.1:c.1550_1558del (RTEL1)	NP_001269939.1:p.His517_Ile519del
NM_016434.3:c.2219_2227del (RTEL1)	NP_057518.1:p.His740_Ile742del
NM_016434.4:c.2219_2227del (RTEL1)	NP_057518.1:p.His740_Ile742del
NM_032957.4:c.2291_2299del (RTEL1)	NP_116575.3:p.His764_Ile766del
NM_032957.5:c.2291_2299del (RTEL1)	NP_116575.3:p.His764_Ile766del
NR_037882.1:n.3046_3054del (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1550_1558del (RTEL1)	ENSP00000322287.5:p.His517_Ile519del
ENST00000318100.9:c.1550_1558del (RTEL1)	ENSP00000322287.5:p.His517_Ile519del
ENST00000360203.9:c.2219_2227del (RTEL1)	ENSP00000353332.5:p.His740_Ile742del
ENST00000370003.2:c.-47_-39del (RTEL1)	ENSP00000359020.1:n.-47_-39del
ENST00000370018.7:c.2219_2227del (RTEL1)	ENSP00000359035.3:p.His740_Ile742del
ENST00000425905.5:c.398_406del (RTEL1)	ENSP00000388063.1:p.His133_Ile135del
ENST00000425905.6:c.1746_1754del (RTEL1)
ENST00000425905.7:n.1746_1754del (RTEL1)
ENST00000480273.5:n.2304_2312del (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2219_2227del (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.His740_Ile742del
ENST00000482936.6:c.2219_2227del (RTEL1)	ENSP00000457868.2:p.His740_Ile742del
ENST00000492259.6:c.2226-130_2226-122del (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.2226-130_2226-122del
ENST00000496281.1:n.734_742del (RTEL1-TNFRSF6B)
ENST00000496281.2:n.1263_1271del (RTEL1-TNFRSF6B)
ENST00000496816.5:c.98_106del (RTEL1)	ENSP00000425576.1:p.His33_Ile35del
ENST00000508582.6:c.2291_2299del (RTEL1)	ENSP00000424307.2:p.His764_Ile766del
ENST00000508582.7:c.2291_2299del (RTEL1)	ENSP00000424307.2:p.His764_Ile766del
ENST00000687123.1:n.1845_1853del (RTEL1)
ENST00000697815.1:n.178_186del (RTEL1-TNFRSF6B)