Linked Data
dbSNP Id:
rs1250430701
gnomAD v2:
10-50669201-CAG-C
gnomAD v3:
10-49461155-CAG-C
gnomAD v4:
10-49461155-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461156_49461157del , CM000672.2:g.49461156_49461157del | GRCh38 |
| NC_000010.10:g.50669202_50669203del , CM000672.1:g.50669202_50669203del | GRCh37 |
| NC_000010.9:g.50339208_50339209del | NCBI36 |
| NG_009442.1:g.82945_82946del , LRG_465:g.82945_82946del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3983+195_3983+196del MANE Select | ENSP00000348089.5:n.3983+195_3983+196del | |
| ENST00000679552.1:n.1054+195_1054+196del | ||
| ENST00000679871.1:n.1129+195_1129+196del | ||
| ENST00000679974.1:n.1032+195_1032+196del | ||
| ENST00000681632.1:n.5386+195_5386+196del | ||
| ENST00000681659.1:c.3824+195_3824+196del | ENSP00000505631.1:n.3824+195_3824+196del | |
| ENST00000355832.9:c.3983+195_3983+196del | ENSP00000348089.5:n.3983+195_3983+196del | |
| ENST00000465653.1:n.305+195_305+196del | ||
| ENST00000623073.3:c.*2279+195_*2279+196del | ENSP00000485650.1:n.*2279+195_*2279+196del | |
| ENST00000623115.3:c.2093+195_2093+196del | ENSP00000485321.1:n.2093+195_2093+196del | |
| ENST00000624341.3:c.1815+195_1815+196del | ||
| NM_000124.3:c.3983+195_3983+196del | NP_000115.1:n.3983+195_3983+196del | |
| XR_945953.1:n.243-10409_243-10408del | ||
| NM_001346440.1:c.3983+195_3983+196del | NP_001333369.1:n.3983+195_3983+196del | |
| NM_000124.4:c.3983+195_3983+196del MANE Select | NP_000115.1:n.3983+195_3983+196del | |
| NM_001346440.2:c.3983+195_3983+196del | NP_001333369.1:n.3983+195_3983+196del |