Linked Data
dbSNP Id:
rs148609302
gnomAD v2:
10-50669144-TAAC-T
gnomAD v3:
10-49461098-TAAC-T
gnomAD v4:
10-49461098-TAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461103_49461105del , CM000672.2:g.49461103_49461105del | GRCh38 |
| NC_000010.10:g.50669149_50669151del , CM000672.1:g.50669149_50669151del | GRCh37 |
| NC_000010.9:g.50339155_50339157del | NCBI36 |
| NG_009442.1:g.83001_83003del , LRG_465:g.83001_83003del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3983+251_3983+253del MANE Select | ENSP00000348089.5:n.3983+251_3983+253del | |
| ENST00000679552.1:n.1054+251_1054+253del | ||
| ENST00000679871.1:n.1129+251_1129+253del | ||
| ENST00000679974.1:n.1032+251_1032+253del | ||
| ENST00000681632.1:n.5386+251_5386+253del | ||
| ENST00000681659.1:c.3824+251_3824+253del | ENSP00000505631.1:n.3824+251_3824+253del | |
| ENST00000355832.9:c.3983+251_3983+253del | ENSP00000348089.5:n.3983+251_3983+253del | |
| ENST00000465653.1:n.305+251_305+253del | ||
| ENST00000623073.3:c.*2279+251_*2279+253del | ENSP00000485650.1:n.*2279+251_*2279+253del | |
| ENST00000623115.3:c.2093+251_2093+253del | ENSP00000485321.1:n.2093+251_2093+253del | |
| ENST00000624341.3:c.1815+251_1815+253del | ||
| NM_000124.3:c.3983+251_3983+253del | NP_000115.1:n.3983+251_3983+253del | |
| XR_945953.1:n.243-10462_243-10460del | ||
| NM_001346440.1:c.3983+251_3983+253del | NP_001333369.1:n.3983+251_3983+253del | |
| NM_000124.4:c.3983+251_3983+253del MANE Select | NP_000115.1:n.3983+251_3983+253del | |
| NM_001346440.2:c.3983+251_3983+253del | NP_001333369.1:n.3983+251_3983+253del |