Linked Data
ClinVar Variation Id:
936469
ClinVar RCV Id:
RCV001205273
dbSNP Id:
rs1850762108
gnomAD v3:
10-49470729-TC-T
gnomAD v4:
10-49470729-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470731del , CM000672.2:g.49470731del | GRCh38 |
| NC_000010.10:g.50678777del , CM000672.1:g.50678777del | GRCh37 |
| NC_000010.9:g.50348783del | NCBI36 |
| NG_009442.1:g.73372del , LRG_465:g.73372del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3230del MANE Select | ENSP00000348089.5:p.Gly1077GlufsTer4 | |
| ENST00000679552.1:n.301del | ||
| ENST00000679871.1:n.376del | ||
| ENST00000679974.1:n.279del | ||
| ENST00000681632.1:n.4633del | ||
| ENST00000681659.1:c.3071del | ENSP00000505631.1:p.Gly1024GlufsTer4 | |
| ENST00000355832.9:c.3230del | ENSP00000348089.5:p.Gly1077GlufsTer4 | |
| ENST00000623073.3:c.*1526del | ENSP00000485650.1:n.*1526del | |
| ENST00000623115.3:c.1340del | ENSP00000485321.1:p.Gly447GlufsTer4 | |
| ENST00000624341.3:c.1062del | ||
| NM_000124.3:c.3230del | NP_000115.1:p.Gly1077GlufsTer4 | |
| XR_945953.1:n.243-834del | ||
| NM_001346440.1:c.3230del | NP_001333369.1:p.Gly1077GlufsTer4 | |
| NM_000124.4:c.3230del MANE Select | NP_000115.1:p.Gly1077GlufsTer4 | |
| NM_001346440.2:c.3230del | NP_001333369.1:p.Gly1077GlufsTer4 |