Linked Data
ClinVar Variation Id:
214323
dbSNP Id:
rs863223955
gnomAD v2:
19-44030671-A-AT
gnomAD v4:
19-43526519-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43526520dup , CM000681.2:g.43526520dup | GRCh38 |
| NC_000019.9:g.44030672dup , CM000681.1:g.44030672dup | GRCh37 |
| NC_000019.8:g.48722512dup | NCBI36 |
| NG_008141.1:g.5725dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292147.7:c.221dup (ETHE1) MANE Select | ENSP00000292147.1:p.Tyr74Ter | |
| ENST00000292147.6:c.221dup (ETHE1) | ENSP00000292147.1:p.Tyr74Ter | |
| ENST00000458714.2:c.29dup (ZNF575) | ENSP00000413956.2:p.Glu11ArgfsTer9 | |
| ENST00000594342.5:c.221dup (ETHE1) | ENSP00000469652.1:p.Tyr74Ter | |
| ENST00000595115.1:n.274dup (ETHE1) | ||
| ENST00000598330.1:c.221dup (ETHE1) | ENSP00000469219.1:p.Tyr74Ter | |
| ENST00000600651.5:c.221dup (ETHE1) | ENSP00000469037.1:p.Tyr74Ter | |
| ENST00000602138.1:c.*225dup (ETHE1) | ENSP00000468964.1:n.*225dup | |
| NM_014297.3:c.221dup (ETHE1) | NP_055112.2:p.Tyr74Ter | |
| XM_005258687.2:c.140dup (ETHE1) | XP_005258744.1:p.Tyr47Ter | |
| XM_005258688.2:c.1dup (ETHE1) | XP_005258745.1:p.Met1AsnfsTer23 | |
| XM_011526685.1:c.221dup (ETHE1) | XP_011524987.1:p.Tyr74Ter | |
| NM_001320867.1:c.221dup (ETHE1) | NP_001307796.1:p.Tyr74Ter | |
| NM_001320868.1:c.1dup (ETHE1) | NP_001307797.1:p.Met1AsnfsTer23 | |
| NM_001320869.1:c.81+577dup (ETHE1) | NP_001307798.1:n.81+577dup | |
| NM_014297.4:c.221dup (ETHE1) | NP_055112.2:p.Tyr74Ter | |
| XM_005258687.4:c.140dup (ETHE1) | XP_005258744.1:p.Tyr47Ter | |
| NM_014297.5:c.221dup (ETHE1) MANE Select | NP_055112.2:p.Tyr74Ter | |
| NM_001320867.2:c.221dup (ETHE1) | NP_001307796.1:p.Tyr74Ter | |
| NM_001320868.2:c.1dup (ETHE1) | NP_001307797.1:p.Met1AsnfsTer23 | |
| NM_001320869.2:c.81+577dup (ETHE1) | NP_001307798.1:n.81+577dup |