Linked Data
ClinVar Variation Id:
4088
dbSNP Id:
rs786200881
MyVariant Identifiers:
chr5:g.149357606del (hg19)
chr5:g.149357604del (hg19)
chr5:g.149978043del (hg38)
chr5:g.149978041del (hg38)
PubMed:
PMID:8931695
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978043del , CM000667.2:g.149978043del | GRCh38 |
| NC_000005.9:g.149357606del , CM000667.1:g.149357606del | GRCh37 |
| NC_000005.8:g.149337799del | NCBI36 |
| NG_007147.2:g.19161del , LRG_684:g.19161del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000690410.1:n.623del | ||
| ENST00000286298.5:c.391del MANE Select | ENSP00000286298.4:p.Leu131CysfsTer? | |
| ENST00000286298.4:c.391del | ENSP00000286298.4:p.Leu131CysfsTer? | |
| ENST00000503336.1:c.64del | ENSP00000426053.1:p.Leu22CysfsTer? | |
| NM_000112.3:c.391del , LRG_684t1:c.391del | NP_000103.2:p.Leu131CysfsTer? | |
| XM_017009191.2:c.391del | XP_016864680.1:p.Leu131CysfsTer? | |
| NM_000112.4:c.391del MANE Select | NP_000103.2:p.Leu131CysfsTer? |