Linked Data
gnomAD v4:
1-94062498-GGCACCCCCAGCCCACCCCAGCCCACTCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062508_94062536del , CM000663.2:g.94062508_94062536del | GRCh38 |
| NC_000001.10:g.94528064_94528092del , CM000663.1:g.94528064_94528092del | GRCh37 |
| NC_000001.9:g.94300652_94300680del | NCBI36 |
| NG_009073.1:g.63623_63651del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.1937+50_1937+78del MANE Select | ENSP00000359245.3:n.1937+50_1937+78del | |
| ENST00000649773.1:c.1937+50_1937+78del | ENSP00000496882.1:n.1937+50_1937+78del | |
| ENST00000370225.3:c.1937+50_1937+78del | ENSP00000359245.3:n.1937+50_1937+78del | |
| ENST00000536513.5:c.-65+647_-65+675del | ENSP00000439707.2:n.-65+647_-65+675del | |
| NM_000350.2:c.1937+50_1937+78del | NP_000341.2:n.1937+50_1937+78del | |
| NM_000350.3:c.1937+50_1937+78del MANE Select | NP_000341.2:n.1937+50_1937+78del |