Linked Data
dbSNP Id:
rs753409229
ExAC:
2:224862823 GC / G
gnomAD v2:
2-224862823-GC-G
gnomAD v3:
2-223998106-GC-G
gnomAD v4:
2-223998106-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223998108del , CM000664.2:g.223998108del | GRCh38 |
| NC_000002.11:g.224862825del , CM000664.1:g.224862825del | GRCh37 |
| NC_000002.10:g.224571069del | NCBI36 |
| NG_032907.1:g.46213del | |
| NG_032907.2:g.46213del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258405.9:c.487+8del | ENSP00000258405.4:n.487+8del | |
| ENST00000409304.6:c.487+8del MANE Select | ENSP00000386412.1:n.487+8del | |
| ENST00000258405.8:c.487+8del | ENSP00000258405.4:n.487+8del | |
| ENST00000409304.5:c.487+8del | ENSP00000386412.1:n.487+8del | |
| ENST00000409840.7:c.487+8del | ENSP00000386969.3:n.487+8del | |
| ENST00000432738.5:c.487+8del | ENSP00000408452.1:n.487+8del | |
| ENST00000447280.6:c.523+8del | ENSP00000415786.2:n.523+8del | |
| NM_001136528.1:c.487+8del | NP_001130000.1:n.487+8del | |
| NM_001136530.1:c.523+8del | NP_001130002.1:n.523+8del | |
| NM_006216.3:c.487+8del | NP_006207.1:n.487+8del | |
| NR_073116.1:n.1148+8del | ||
| XM_005246641.2:c.523+8del | XP_005246698.1:n.523+8del | |
| XM_005246642.2:c.487+8del | XP_005246699.1:n.487+8del | |
| XM_017004330.1:c.487+8del | XP_016859819.1:n.487+8del | |
| XM_017004332.2:c.487+8del | XP_016859821.1:n.487+8del | |
| NM_001136528.2:c.487+8del MANE Select | NP_001130000.1:n.487+8del | |
| NM_006216.4:c.487+8del | NP_006207.1:n.487+8del | |
| NR_073116.2:n.1148+8del |