Linked Data
dbSNP Id:
rs1211559191
gnomAD v2:
14-91739006-TC-T
gnomAD v3:
14-91272662-TC-T
gnomAD v4:
14-91272662-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272666del , CM000676.2:g.91272666del | GRCh38 |
| NC_000014.8:g.91739010del , CM000676.1:g.91739010del | GRCh37 |
| NC_000014.7:g.90808763del | NCBI36 |
| NG_033118.1:g.150182del | |
| NG_033118.2:g.150182del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6049del MANE Select | ENSP00000374507.6:p.Asp2017IlefsTer? | |
| ENST00000331194.8:c.1483del | ENSP00000330332.8:p.Asp495IlefsTer? | |
| ENST00000389857.10:c.6049del | ENSP00000374507.6:p.Asp2017IlefsTer? | |
| ENST00000556726.5:c.2277del | ||
| NM_001080414.3:c.6049del | NP_001073883.2:p.Asp2017IlefsTer? | |
| XM_011536796.1:c.5941del | XP_011535098.1:p.Asp1981IlefsTer? | |
| XM_011536796.2:c.5941del | XP_011535098.1:p.Asp1981IlefsTer? | |
| XM_017021336.1:c.3130del | XP_016876825.1:p.Asp1044IlefsTer? | |
| NM_001080414.4:c.6049del MANE Select | NP_001073883.2:p.Asp2017IlefsTer? |