Linked Data
dbSNP Id:
rs2040968490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436082_67436083del , CM000678.2:g.67436082_67436083del | GRCh38 |
| NC_000016.9:g.67469985_67469986del , CM000678.1:g.67469985_67469986del | GRCh37 |
| NC_000016.8:g.66027486_66027487del | NCBI36 |
| NG_011482.1:g.50105_50106del | |
| NG_016549.1:g.9950_9951del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.604_605del MANE Select | ENSP00000316786.5:p.Gly202ProfsTer? | |
| ENST00000326152.5:c.604_605del | ENSP00000316786.5:p.Gly202ProfsTer? | |
| ENST00000566606.1:c.582_583del | ENSP00000473429.1:n.582_583del | |
| ENST00000567684.2:n.467_468del | ||
| NM_000196.3:c.604_605del | NP_000187.3:p.Gly202ProfsTer? | |
| NM_000196.4:c.604_605del MANE Select | NP_000187.3:p.Gly202ProfsTer? |