Linked Data
ClinVar Variation Id:
374907
ClinVar RCV Id:
RCV000415545
dbSNP Id:
rs1057519299
PubMed:
PMID:26395190
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151421322del , CM000668.2:g.151421322del | GRCh38 |
| NC_000006.11:g.151742457del , CM000668.1:g.151742457del | GRCh37 |
| NC_000006.10:g.151784150del | NCBI36 |
| NG_033031.1:g.35861del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644054.2:c.*285del | ||
| ENST00000646926.2:c.938del | ||
| ENST00000682004.1:n.2393del | ||
| ENST00000682299.1:c.1002+1220del | ENSP00000506811.1:n.1002+1220del | |
| ENST00000682392.1:c.1003del | ||
| ENST00000682641.1:c.1003del | ||
| ENST00000683439.1:n.3286del | ||
| ENST00000683724.1:c.1003del | ||
| ENST00000684301.1:c.*402del | ||
| ENST00000684605.1:n.1543del | ||
| ENST00000684658.1:n.1148del | ||
| ENST00000684715.1:n.1148del | ||
| ENST00000684765.1:c.1003del | ||
| ENST00000336451.8:c.*402del | ||
| ENST00000444024.3:c.1003del | ||
| ENST00000622845.5:c.493del | ||
| ENST00000644054.1:c.926del | ||
| ENST00000644711.1:c.1003del | ||
| ENST00000645367.1:n.981del | ||
| ENST00000645895.1:n.1120del | ||
| ENST00000646926.1:c.346del | ||
| ENST00000336451.7:c.370del | ||
| ENST00000367303.8:c.1003del | ||
| ENST00000444024.1:c.493del | ||
| ENST00000622845.4:c.493del | ||
| NM_001271937.1:c.493del | ||
| NM_017909.3:c.1003del | ||
| XM_005267040.2:c.370del | ||
| XR_942497.1:n.1183del | ||
| XM_005267040.4:c.370del | ||
| XM_017010988.2:c.370del | ||
| XR_001743503.2:n.1171del | ||
| XR_002956288.1:n.1128del | ||
| NM_017909.4:c.1003del | ||
| NM_001271937.2:c.493del |