Linked Data
dbSNP Id:
rs398124643
MyVariant Identifiers:
chr10:g.120907365_120907366insA (hg19)
chr10:g.119147853_119147854insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119147853_119147854insA , CM000672.2:g.119147853_119147854insA | GRCh38 |
| NC_000010.10:g.120907365_120907366insA , CM000672.1:g.120907365_120907366insA | GRCh37 |
| NC_000010.9:g.120897355_120897356insA | NCBI36 |
| NG_033895.1:g.22839_22840insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355697.7:c.739_740insT MANE Select | ENSP00000347924.2:p.Arg247MetfsTer19 | |
| ENST00000355697.6:c.739_740insT | ENSP00000347924.2:p.Arg247MetfsTer19 | |
| ENST00000369131.8:c.391_392insT | ENSP00000358127.4:p.Arg131MetfsTer19 | |
| ENST00000461438.5:n.768_769insT | ||
| ENST00000466218.5:n.688_689insT | ||
| ENST00000484960.5:n.69_70insT | ||
| ENST00000490417.6:n.202_203insT | ||
| NM_213649.1:c.739_740insT | NP_998814.1:p.Arg247MetfsTer19 | |
| NR_110305.1:n.757_758insT | ||
| XM_005269525.3:c.712_713insT | XP_005269582.1:p.Arg238MetfsTer19 | |
| XM_005269526.1:c.391_392insT | XP_005269583.1:p.Arg131MetfsTer19 | |
| XM_005269527.1:c.391_392insT | XP_005269584.1:p.Arg131MetfsTer19 | |
| XM_011539282.1:c.391_392insT | XP_011537584.1:p.Arg131MetfsTer19 | |
| XR_945603.1:n.801_802insT | ||
| XM_005269525.5:c.712_713insT | XP_005269582.1:p.Arg238MetfsTer19 | |
| XM_005269526.2:c.391_392insT | XP_005269583.1:p.Arg131MetfsTer19 | |
| XM_011539282.2:c.391_392insT | XP_011537584.1:p.Arg131MetfsTer19 | |
| XM_024447793.1:c.391_392insT | XP_024303561.1:p.Arg131MetfsTer19 | |
| XR_001747022.1:n.990_991insT | ||
| XR_001747023.1:n.884_885insT | ||
| XR_945603.3:n.820_821insT | ||
| NM_213649.2:c.739_740insT MANE Select | NP_998814.1:p.Arg247MetfsTer19 |