Linked Data
ClinVar Variation Id:
1706
ClinVar RCV Id:
RCV000001775
dbSNP Id:
rs758341467
ExAC:
10:50678289 CTT / C
gnomAD v2:
10-50678289-CTT-C
gnomAD v4:
10-49470243-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470244_49470245del , CM000672.2:g.49470244_49470245del | GRCh38 |
| NC_000010.10:g.50678290_50678291del , CM000672.1:g.50678290_50678291del | GRCh37 |
| NC_000010.9:g.50348296_50348297del | NCBI36 |
| NG_009442.1:g.73857_73858del , LRG_465:g.73857_73858del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3715_3716del MANE Select | ENSP00000348089.5:p.Lys1239GlufsTer2 | |
| ENST00000679552.1:n.786_787del | ||
| ENST00000679871.1:n.861_862del | ||
| ENST00000679974.1:n.764_765del | ||
| ENST00000681632.1:n.5118_5119del | ||
| ENST00000681659.1:c.3556_3557del | ENSP00000505631.1:p.Lys1186GlufsTer2 | |
| ENST00000355832.9:c.3715_3716del | ENSP00000348089.5:p.Lys1239GlufsTer2 | |
| ENST00000465653.1:n.37_38del | ||
| ENST00000623073.3:c.*2011_*2012del | ENSP00000485650.1:n.*2011_*2012del | |
| ENST00000623115.3:c.1825_1826del | ENSP00000485321.1:p.Lys609GlufsTer2 | |
| ENST00000624341.3:c.1547_1548del | ||
| NM_000124.3:c.3715_3716del | NP_000115.1:p.Lys1239GlufsTer2 | |
| XR_945953.1:n.243-1321_243-1320del | ||
| NM_001346440.1:c.3715_3716del | NP_001333369.1:p.Lys1239GlufsTer2 | |
| NM_000124.4:c.3715_3716del MANE Select | NP_000115.1:p.Lys1239GlufsTer2 | |
| NM_001346440.2:c.3715_3716del | NP_001333369.1:p.Lys1239GlufsTer2 |