Linked Data
ClinVar Variation Id:
617793
ClinVar RCV Id:
RCV000755066
dbSNP Id:
rs1567556169
MyVariant Identifiers:
chr17:g.10543103del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10639787del , CM000679.2:g.10639787del | GRCh38 |
| NC_000017.10:g.10543104del , CM000679.1:g.10543104del | GRCh37 |
| NC_000017.9:g.10483829del | NCBI36 |
| NG_011537.1:g.22513del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583535.6:c.2699del MANE Select | ENSP00000464317.1:p.Leu900TrpfsTer10 | |
| ENST00000583535.5:c.2699del | ENSP00000464317.1:p.Leu900TrpfsTer10 | |
| NM_002470.3:c.2699del | NP_002461.2:p.Leu900TrpfsTer10 | |
| XM_011523870.1:c.2699del | XP_011522172.1:p.Leu900TrpfsTer10 | |
| XM_011523871.1:c.2699del | XP_011522173.1:p.Leu900TrpfsTer10 | |
| XM_011523872.1:c.2699del | XP_011522174.1:p.Leu900TrpfsTer10 | |
| XM_011523870.3:c.2699del | XP_011522172.1:p.Leu900TrpfsTer10 | |
| XM_011523871.2:c.2699del | XP_011522173.1:p.Leu900TrpfsTer10 | |
| NM_002470.4:c.2699del MANE Select | NP_002461.2:p.Leu900TrpfsTer10 |