Linked Data
dbSNP Id:
rs10717389
gnomAD v2:
20-62303001-ATT-A
gnomAD v3:
20-63671648-ATT-A
gnomAD v4:
20-63671648-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63671663_63671664del , CM000682.2:g.63671663_63671664del | GRCh38 |
| NC_000020.10:g.62303016_62303017del , CM000682.1:g.62303016_62303017del | GRCh37 |
| NC_000020.9:g.61773460_61773461del | NCBI36 |
| NG_033901.1:g.18854_18855del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425905.7:n.374-893_374-892del (RTEL1) | ||
| ENST00000425905.6:c.374-893_374-892del (RTEL1) | ||
| ENST00000508582.7:c.772-893_772-892del (RTEL1) | ENSP00000424307.2:n.772-893_772-892del | |
| ENST00000684971.1:n.1131-893_1131-892del (RTEL1) | ||
| ENST00000686756.1:n.1018-893_1018-892del (RTEL1) | ||
| ENST00000687123.1:n.530-893_530-892del (RTEL1) | ||
| ENST00000692658.1:n.1138-893_1138-892del (RTEL1) | ||
| ENST00000692911.1:n.1427-893_1427-892del (RTEL1) | ||
| ENST00000318100.9:c.31-893_31-892del (RTEL1) | ENSP00000322287.5:n.31-893_31-892del | |
| ENST00000360203.11:c.700-893_700-892del (RTEL1) MANE Select | ENSP00000353332.5:n.700-893_700-892del | |
| ENST00000482936.6:c.700-893_700-892del (RTEL1) | ENSP00000457868.2:n.700-893_700-892del | |
| ENST00000318100.8:c.31-893_31-892del (RTEL1) | ENSP00000322287.5:n.31-893_31-892del | |
| ENST00000356810.5:c.850-893_850-892del (RTEL1) | ENSP00000349265.4:n.850-893_850-892del | |
| ENST00000360203.9:c.700-893_700-892del (RTEL1) | ENSP00000353332.5:n.700-893_700-892del | |
| ENST00000370018.7:c.700-893_700-892del (RTEL1) | ENSP00000359035.3:n.700-893_700-892del | |
| ENST00000463361.1:n.397-893_397-892del (RTEL1) | ||
| ENST00000482936.5:c.700-893_700-892del (RTEL1-TNFRSF6B) | ENSP00000457868.1:n.700-893_700-892del | |
| ENST00000492259.6:c.700-893_700-892del (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.700-893_700-892del | |
| ENST00000508582.6:c.772-893_772-892del (RTEL1) | ENSP00000424307.2:n.772-893_772-892del | |
| NM_001283009.1:c.700-893_700-892del (RTEL1) | NP_001269938.1:n.700-893_700-892del | |
| NM_001283010.1:c.31-893_31-892del (RTEL1) | NP_001269939.1:n.31-893_31-892del | |
| NM_016434.3:c.700-893_700-892del (RTEL1) | NP_057518.1:n.700-893_700-892del | |
| NM_032957.4:c.772-893_772-892del (RTEL1) | NP_116575.3:n.772-893_772-892del | |
| NR_037882.1:n.1527-893_1527-892del (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.700-893_700-892del (RTEL1) MANE Select | NP_001269938.1:n.700-893_700-892del | |
| NM_016434.4:c.700-893_700-892del (RTEL1) | NP_057518.1:n.700-893_700-892del | |
| NM_032957.5:c.772-893_772-892del (RTEL1) | NP_116575.3:n.772-893_772-892del |