Linked Data
dbSNP Id:
rs1564442022
gnomAD v2:
10-50732138-A-ACCG
gnomAD v4:
10-49524092-A-ACCG
MyVariant Identifiers:
chr10:g.50732141delinsGCCT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524094_49524095insGCC , CM000672.2:g.49524094_49524095insGCC | GRCh38 |
| NC_000010.10:g.50732140_50732141insGCC , CM000672.1:g.50732140_50732141insGCC | GRCh37 |
| NC_000010.9:g.50402146_50402147insGCC | NCBI36 |
| NG_009442.1:g.20009_20010insCGG , LRG_465:g.20009_20010insCGG | |
| NG_033155.1:g.5189_5190insCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1337_1338insCGG (ERCC6) MANE Select | ENSP00000348089.5:p.Gly446_Arg447insGly | |
| ENST00000447839.7:c.1337_1338insCGG (ERCC6) MANE Plus Clinical | ENSP00000387966.2:p.Gly446_Arg447insGly | |
| ENST00000679596.1:c.*966_*967insCGG (ERCC6) | ENSP00000504862.1:n.*966_*967insCGG | |
| ENST00000679811.1:n.1420_1421insCGG (ERCC6) | ||
| ENST00000680107.1:c.652+4324_652+4325insCGG (ERCC6) | ENSP00000505909.1:n.652+4324_652+4325insCGG | |
| ENST00000680233.1:n.1430_1431insCGG (ERCC6) | ||
| ENST00000681632.1:n.1415_1416insCGG (ERCC6) | ||
| ENST00000681659.1:c.1337_1338insCGG (ERCC6) | ENSP00000505631.1:p.Gly446_Arg447insGly | |
| ENST00000355832.9:c.1337_1338insCGG (ERCC6) | ENSP00000348089.5:p.Gly446_Arg447insGly | |
| ENST00000374127.3:c.-68_-67insCGG | ENSP00000363242.3:n.-68_-67insCGG | |
| ENST00000447839.6:c.1337_1338insCGG | ENSP00000387966.2:p.Gly446_Arg447insGly | |
| ENST00000515869.1:c.1337_1338insCGG | ENSP00000423550.1:p.Gly446_Arg447insGly | |
| NM_000124.3:c.1337_1338insCGG (ERCC6) | NP_000115.1:p.Gly446_Arg447insGly | |
| NM_001277058.1:c.1337_1338insCGG | NP_001263987.1:p.Gly446_Arg447insGly | |
| NM_001277059.1:c.1337_1338insCGG | NP_001263988.1:p.Gly446_Arg447insGly | |
| NM_170753.3:c.-68_-67insCGG (PGBD3) | NP_736609.2:n.-68_-67insCGG | |
| NM_001346440.1:c.1337_1338insCGG (ERCC6) | NP_001333369.1:p.Gly446_Arg447insGly | |
| NM_000124.4:c.1337_1338insCGG (ERCC6) MANE Select | NP_000115.1:p.Gly446_Arg447insGly | |
| NM_001277058.2:c.1337_1338insCGG (ERCC6) MANE Plus Clinical | NP_001263987.1:p.Gly446_Arg447insGly | |
| NM_001277059.2:c.1337_1338insCGG (ERCC6) | NP_001263988.1:p.Gly446_Arg447insGly | |
| NM_001346440.2:c.1337_1338insCGG (ERCC6) | NP_001333369.1:p.Gly446_Arg447insGly |