Linked Data
dbSNP Id:
rs747996231
ExAC:
9:75435838 C / CCGTT
gnomAD v2:
9-75435838-C-CCGTT
gnomAD v4:
9-72820922-C-CCGTT
MyVariant Identifiers:
chr9:g.75435838_75435839insCGTT (hg19)
chr9:g.72820922_72820923insCGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820923_72820926dup , CM000671.2:g.72820923_72820926dup | GRCh38 |
| NC_000009.11:g.75435839_75435842dup , CM000671.1:g.75435839_75435842dup | GRCh37 |
| NC_000009.10:g.74625659_74625662dup | NCBI36 |
| NG_008213.1:g.304123_304126dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1845_1848dup MANE Select | ENSP00000297784.6:p.Met617ArgfsTer8 | |
| ENST00000644967.1:c.*285_*288dup | ENSP00000496159.1:n.*285_*288dup | |
| ENST00000645053.1:c.1258-5946_1258-5943dup | ENSP00000493838.1:n.1258-5946_1258-5943dup | |
| ENST00000645208.2:c.1845_1848dup | ENSP00000494684.1:p.Met617ArgfsTer8 | |
| ENST00000645773.1:c.1719_1722dup | ENSP00000493698.1:p.Met575ArgfsTer8 | |
| ENST00000645787.1:n.1988_1991dup | ||
| ENST00000646619.1:c.1407_1410dup | ENSP00000493726.1:p.Met471ArgfsTer8 | |
| ENST00000651183.1:c.1407_1410dup | ENSP00000498723.1:p.Met471ArgfsTer8 | |
| ENST00000297784.9:c.1845_1848dup | ENSP00000297784.5:p.Met617ArgfsTer8 | |
| ENST00000340019.4:c.1845_1848dup | ENSP00000341433.3:p.Met617ArgfsTer8 | |
| ENST00000469455.1:n.326_329dup | ||
| ENST00000486417.5:n.743_746dup | ||
| NM_138691.2:c.1845_1848dup | NP_619636.2:p.Met617ArgfsTer8 | |
| XM_011518213.1:c.2433_2436dup | XP_011516515.1:p.Met813ArgfsTer8 | |
| XM_017014256.1:c.1848_1851dup | XP_016869745.1:p.Met618ArgfsTer8 | |
| NM_138691.3:c.1845_1848dup MANE Select | NP_619636.2:p.Met617ArgfsTer8 |