Linked Data
ClinVar Variation Id:
41409
ClinVar RCV Id:
RCV000034311
dbSNP Id:
rs398122934
PubMed:
PMID:20082464
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48472630_48472636del , CM000677.2:g.48472630_48472636del | GRCh38 |
| NC_000015.9:g.48764827_48764833del , CM000677.1:g.48764827_48764833del | GRCh37 |
| NC_000015.8:g.46552119_46552125del | NCBI36 |
| NG_008805.2:g.178155_178161del , LRG_778:g.178155_178161del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4253_4259del | ENSP00000453958.2:p.Gly1418AlafsTer? | |
| ENST00000674301.2:c.4253_4259del | ENSP00000501333.2:p.Gly1418AlafsTer? | |
| ENST00000683268.1:n.220_226del | ||
| ENST00000684448.1:n.2927_2933del | ||
| ENST00000316623.10:c.4253_4259del MANE Select | ENSP00000325527.5:p.Gly1418AlafsTer? | |
| ENST00000316623.9:c.4253_4259del | ENSP00000325527.5:p.Gly1418AlafsTer? | |
| ENST00000537463.6:c.*16_*22del | ENSP00000440294.2:n.*16_*22del | |
| NM_000138.4:c.4253_4259del , LRG_778t1:c.4253_4259del | NP_000129.3:p.Gly1418AlafsTer? | |
| NM_000138.5:c.4253_4259del MANE Select | NP_000129.3:p.Gly1418AlafsTer? |