Linked Data
dbSNP Id:
rs2153503909
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189007597del , CM000664.2:g.189007597del | GRCh38 |
| NC_000002.11:g.189872323del , CM000664.1:g.189872323del | GRCh37 |
| NC_000002.10:g.189580568del | NCBI36 |
| NG_007404.1:g.38225del , LRG_3:g.38225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3254del | ENSP00000415346.2:p.Pro1085GlnfsTer? | |
| ENST00000304636.9:c.3353del MANE Select | ENSP00000304408.4:p.Pro1118GlnfsTer? | |
| ENST00000304636.7:c.3353del | ENSP00000304408.3:p.Pro1118GlnfsTer? | |
| ENST00000317840.9:c.2528-457del | ENSP00000315243.6:n.2528-457del | |
| NM_000090.3:c.3353del , LRG_3t1:c.3353del | NP_000081.1:p.Pro1118GlnfsTer? | |
| NM_000090.4:c.3353del MANE Select | NP_000081.2:p.Pro1118GlnfsTer? |