Linked Data
dbSNP Id:
rs955493242
gnomAD v2:
19-44030596-C-CT
gnomAD v3:
19-43526444-C-CT
gnomAD v4:
19-43526444-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43526444_43526445insT , CM000681.2:g.43526444_43526445insT | GRCh38 |
| NC_000019.9:g.44030596_44030597insT , CM000681.1:g.44030596_44030597insT | GRCh37 |
| NC_000019.8:g.48722436_48722437insT | NCBI36 |
| NG_008141.1:g.5800_5801insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.226+70_226+71insA (ETHE1) MANE Select | ENSP00000292147.1:n.226+70_226+71insA | |
| ENST00000292147.6:c.226+70_226+71insA (ETHE1) | ENSP00000292147.1:n.226+70_226+71insA | |
| ENST00000458714.2:c.-48_-47insT (ZNF575) | ENSP00000413956.2:n.-48_-47insT | |
| ENST00000594342.5:c.226+70_226+71insA (ETHE1) | ENSP00000469652.1:n.226+70_226+71insA | |
| ENST00000595115.1:n.349_350insA (ETHE1) | ||
| ENST00000598330.1:c.226+70_226+71insA (ETHE1) | ENSP00000469219.1:n.226+70_226+71insA | |
| ENST00000600651.5:c.226+70_226+71insA (ETHE1) | ENSP00000469037.1:n.226+70_226+71insA | |
| ENST00000602138.1:c.*230+70_*230+71insA (ETHE1) | ENSP00000468964.1:n.*230+70_*230+71insA | |
| NM_014297.3:c.226+70_226+71insA (ETHE1) | NP_055112.2:n.226+70_226+71insA | |
| XM_005258687.2:c.145+70_145+71insA (ETHE1) | XP_005258744.1:n.145+70_145+71insA | |
| XM_005258688.2:c.6+70_6+71insA (ETHE1) | XP_005258745.1:n.6+70_6+71insA | |
| XM_011526685.1:c.226+70_226+71insA (ETHE1) | XP_011524987.1:n.226+70_226+71insA | |
| NM_001320867.1:c.226+70_226+71insA (ETHE1) | NP_001307796.1:n.226+70_226+71insA | |
| NM_001320868.1:c.6+70_6+71insA (ETHE1) | NP_001307797.1:n.6+70_6+71insA | |
| NM_001320869.1:c.81+652_81+653insA (ETHE1) | NP_001307798.1:n.81+652_81+653insA | |
| NM_014297.4:c.226+70_226+71insA (ETHE1) | NP_055112.2:n.226+70_226+71insA | |
| XM_005258687.4:c.145+70_145+71insA (ETHE1) | XP_005258744.1:n.145+70_145+71insA | |
| NM_014297.5:c.226+70_226+71insA (ETHE1) MANE Select | NP_055112.2:n.226+70_226+71insA | |
| NM_001320867.2:c.226+70_226+71insA (ETHE1) | NP_001307796.1:n.226+70_226+71insA | |
| NM_001320868.2:c.6+70_6+71insA (ETHE1) | NP_001307797.1:n.6+70_6+71insA | |
| NM_001320869.2:c.81+652_81+653insA (ETHE1) | NP_001307798.1:n.81+652_81+653insA |