ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29813815_29813822del , CM000678.2:g.29813815_29813822del | GRCh38 |
| NC_000016.9:g.29825136_29825143del , CM000678.1:g.29825136_29825143del | GRCh37 |
| NC_000016.8:g.29732637_29732644del | NCBI36 |
| NG_032039.1:g.6728_6735del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358758.12:c.761_768del MANE Select | ENSP00000351608.7:p.Pro254ArgfsTer4 | |
| ENST00000567551.2:c.339+422_339+429del | ENSP00000489813.1:n.339+422_339+429del | |
| ENST00000636131.1:c.761_768del | ENSP00000490390.1:p.Pro254ArgfsTer4 | |
| ENST00000636619.1:c.724+37_724+44del | ENSP00000489669.1:n.724+37_724+44del | |
| ENST00000637064.1:c.761_768del | ENSP00000490826.1:p.Pro254ArgfsTer4 | |
| ENST00000637290.1:c.*76_*83del | ENSP00000490278.1:n.*76_*83del | |
| ENST00000637403.1:c.721+40_721+47del | ENSP00000489782.1:n.721+40_721+47del | |
| ENST00000637565.1:c.339+422_339+429del | ENSP00000490207.1:n.339+422_339+429del | |
| ENST00000647876.1:c.761_768del | ENSP00000498021.1:p.Pro254ArgfsTer4 | |
| ENST00000300797.7:c.761_768del | ENSP00000300797.6:p.Pro254ArgfsTer4 | |
| ENST00000358758.11:c.761_768del | ENSP00000351608.7:p.Pro254ArgfsTer4 | |
| ENST00000567659.3:c.761_768del | ENSP00000456226.1:p.Pro254ArgfsTer4 | |
| ENST00000572820.2:c.761_768del | ENSP00000458291.2:p.Pro254ArgfsTer4 | |
| ENST00000609618.2:c.761_768del | ENSP00000476774.2:p.Pro254ArgfsTer4 | |
| NM_001256442.1:c.761_768del | NP_001243371.1:p.Pro254ArgfsTer4 | |
| NM_001256443.1:c.761_768del | NP_001243372.1:p.Pro254ArgfsTer4 | |
| NM_145239.2:c.761_768del | NP_660282.2:p.Pro254ArgfsTer4 | |
| XM_011545715.1:c.761_768del | XP_011544017.1:p.Pro254ArgfsTer4 | |
| XM_011545716.1:c.761_768del | XP_011544018.1:p.Pro254ArgfsTer4 | |
| XM_011545717.1:c.761_768del | XP_011544019.1:p.Pro254ArgfsTer4 | |
| XM_011545718.1:c.761_768del | XP_011544020.1:p.Pro254ArgfsTer4 | |
| XM_011545715.3:c.761_768del | XP_011544017.1:p.Pro254ArgfsTer4 | |
| XM_017022887.2:c.761_768del | XP_016878376.1:p.Pro254ArgfsTer4 | |
| XM_017022888.2:c.761_768del | XP_016878377.1:p.Pro254ArgfsTer4 | |
| XM_017022889.2:c.761_768del | XP_016878378.1:p.Pro254ArgfsTer4 | |
| NM_145239.3:c.761_768del MANE Select | NP_660282.2:p.Pro254ArgfsTer4 | |
| NM_001256442.2:c.761_768del | NP_001243371.1:p.Pro254ArgfsTer4 | |
| NM_001256443.2:c.761_768del | NP_001243372.1:p.Pro254ArgfsTer4 |