Linked Data
ClinVar Variation Id:
558026
ClinVar RCV Id:
RCV000674239
dbSNP Id:
rs772545860
ExAC:
10:50732264 C / CTGA
gnomAD v2:
10-50732264-C-CTGA
gnomAD v4:
10-49524218-C-CTGA
MyVariant Identifiers:
chr10:g.50732264_50732265insTGA (hg19)
chr10:g.49524218_49524219insTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524218_49524219insTGA , CM000672.2:g.49524218_49524219insTGA | GRCh38 |
| NC_000010.10:g.50732264_50732265insTGA , CM000672.1:g.50732264_50732265insTGA | GRCh37 |
| NC_000010.9:g.50402270_50402271insTGA | NCBI36 |
| NG_009442.1:g.19883_19884insTCA , LRG_465:g.19883_19884insTCA | |
| NG_033155.1:g.5063_5064insTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1211_1212insTCA (ERCC6) MANE Select | ENSP00000348089.5:p.Leu404_Lys405insGln | |
| ENST00000447839.7:c.1211_1212insTCA (ERCC6) MANE Plus Clinical | ENSP00000387966.2:p.Leu404_Lys405insGln | |
| ENST00000679596.1:c.*840_*841insTCA (ERCC6) | ENSP00000504862.1:n.*840_*841insTCA | |
| ENST00000679811.1:n.1294_1295insTCA (ERCC6) | ||
| ENST00000680107.1:c.652+4198_652+4199insTCA (ERCC6) | ENSP00000505909.1:n.652+4198_652+4199insTCA | |
| ENST00000680233.1:n.1304_1305insTCA (ERCC6) | ||
| ENST00000681632.1:n.1289_1290insTCA (ERCC6) | ||
| ENST00000681659.1:c.1211_1212insTCA (ERCC6) | ENSP00000505631.1:p.Leu404_Lys405insGln | |
| ENST00000355832.9:c.1211_1212insTCA (ERCC6) | ENSP00000348089.5:p.Leu404_Lys405insGln | |
| ENST00000374127.3:c.-194_-193insTCA | ENSP00000363242.3:n.-194_-193insTCA | |
| ENST00000447839.6:c.1211_1212insTCA | ENSP00000387966.2:p.Leu404_Lys405insGln | |
| ENST00000515869.1:c.1211_1212insTCA | ENSP00000423550.1:p.Leu404_Lys405insGln | |
| NM_000124.3:c.1211_1212insTCA (ERCC6) | NP_000115.1:p.Leu404_Lys405insGln | |
| NM_001277058.1:c.1211_1212insTCA | NP_001263987.1:p.Leu404_Lys405insGln | |
| NM_001277059.1:c.1211_1212insTCA | NP_001263988.1:p.Leu404_Lys405insGln | |
| NM_170753.3:c.-194_-193insTCA (PGBD3) | NP_736609.2:n.-194_-193insTCA | |
| NM_001346440.1:c.1211_1212insTCA (ERCC6) | NP_001333369.1:p.Leu404_Lys405insGln | |
| NM_000124.4:c.1211_1212insTCA (ERCC6) MANE Select | NP_000115.1:p.Leu404_Lys405insGln | |
| NM_001277058.2:c.1211_1212insTCA (ERCC6) MANE Plus Clinical | NP_001263987.1:p.Leu404_Lys405insGln | |
| NM_001277059.2:c.1211_1212insTCA (ERCC6) | NP_001263988.1:p.Leu404_Lys405insGln | |
| NM_001346440.2:c.1211_1212insTCA (ERCC6) | NP_001333369.1:p.Leu404_Lys405insGln |