MyVariant.info:
GRCh38
chr16:g.1839352_1839355del
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1839355_1839358del , CM000678.2:g.1839355_1839358del | GRCh38 |
| NC_000016.9:g.1889356_1889359del , CM000678.1:g.1889356_1889359del | GRCh37 |
| NC_000016.8:g.1829357_1829360del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382666.6:c.*102_*105del (FAHD1) | ENSP00000372112.5:n.*102_*105del | |
| ENST00000382668.8:c.*49_*52del (FAHD1) | ENSP00000372114.5:n.*49_*52del | |
| ENST00000325962.9:c.1118_1121del (MEIOB) MANE Select | ENSP00000314484.3:p.Phe373SerfsTer6 | |
| ENST00000325962.7:c.1118_1121del (MEIOB) | ENSP00000314484.3:p.Phe373SerfsTer6 | |
| ENST00000382666.5:c.*102_*105del (FAHD1) | ENSP00000372112.4:n.*102_*105del | |
| ENST00000382668.7:c.*49_*52del (FAHD1) | ENSP00000372114.4:n.*49_*52del | |
| ENST00000397344.7:c.1118_1121del (MEIOB) | ENSP00000380504.3:p.Phe373SerfsTer6 | |
| ENST00000412554.6:c.1118_1121del (MEIOB) | ENSP00000390778.2:p.Phe373SerfsTer6 | |
| ENST00000470044.5:c.497_500del (MEIOB) | ENSP00000457416.1:p.Phe166SerfsTer6 | |
| ENST00000490154.1:n.172_175del (MEIOB) | ||
| NM_001018104.2:c.*102_*105del (FAHD1) | NP_001018114.1:n.*102_*105del | |
| NM_001142398.1:c.*49_*52del (FAHD1) | NP_001135870.1:n.*49_*52del | |
| NM_001163560.2:c.1118_1121del (MEIOB) | NP_001157032.1:p.Phe373SerfsTer6 | |
| NM_152764.2:c.1118_1121del (MEIOB) | NP_689977.2:p.Phe373SerfsTer6 | |
| NM_001163560.3:c.1118_1121del (MEIOB) MANE Select | NP_001157032.1:p.Phe373SerfsTer6 | |
| NM_152764.3:c.1118_1121del (MEIOB) | NP_689977.2:p.Phe373SerfsTer6 | |
| NM_001018104.3:c.*102_*105del (FAHD1) | NP_001018114.2:n.*102_*105del | |
| NM_001142398.2:c.*49_*52del (FAHD1) | NP_001135870.2:n.*49_*52del |