Linked Data
dbSNP Id:
rs749084511
ExAC:
1:245027328 TTCC / T
gnomAD v2:
1-245027328-TTCC-T
gnomAD v3:
1-244864026-TTCC-T
gnomAD v4:
1-244864026-TTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864035_244864037del , CM000663.2:g.244864035_244864037del | GRCh38 |
| NC_000001.10:g.245027337_245027339del , CM000663.1:g.245027337_245027339del | GRCh37 |
| NC_000001.9:g.243093960_243093962del | NCBI36 |
| NG_042184.1:g.5497_5499del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.279_281del | ENSP00000283179.10:p.Glu94del | |
| ENST00000444376.7:c.279_281del | ENSP00000393151.2:p.Glu94del | |
| ENST00000476241.2:n.464_466del | ||
| ENST00000638475.1:c.63_65del | ENSP00000491305.1:p.Glu22del | |
| ENST00000638952.1:n.510_512del | ||
| ENST00000640218.2:c.279_281del MANE Select | ENSP00000491215.1:p.Glu94del | |
| ENST00000640306.1:c.279_281del | ENSP00000491685.1:p.Glu94del | |
| ENST00000649899.1:n.503_505del | ||
| ENST00000283179.13:c.279_281del | ENSP00000283179.9:p.Glu94del | |
| ENST00000444376.6:c.279_281del | ENSP00000393151.2:p.Glu94del | |
| ENST00000476241.1:n.463_465del | ||
| NM_004501.3:c.279_281del | NP_004492.2:p.Glu94del | |
| NM_031844.2:c.279_281del | NP_114032.2:p.Glu94del | |
| NM_031844.3:c.279_281del MANE Select | NP_114032.2:p.Glu94del |