Linked Data
dbSNP Id:
rs760366985
ExAC:
19:49207021 TCA / T
gnomAD v2:
19-49207021-TCA-T
gnomAD v4:
19-48703764-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703766_48703767del , CM000681.2:g.48703766_48703767del | GRCh38 |
| NC_000019.9:g.49207023_49207024del , CM000681.1:g.49207023_49207024del | GRCh37 |
| NC_000019.8:g.53898835_53898836del | NCBI36 |
| NG_007511.1:g.12796_12797del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.810_811del MANE Select | ENSP00000387498.2:p.Pro271CysfsTer11 | |
| ENST00000522966.2:c.810_811del | ENSP00000430227.2:p.Pro271CysfsTer11 | |
| ENST00000391876.5:c.810_811del | ENSP00000375748.4:p.Pro271CysfsTer11 | |
| ENST00000425340.2:c.810_811del | ENSP00000387498.2:p.Pro271CysfsTer11 | |
| NM_000511.5:c.810_811del | NP_000502.4:p.Pro271CysfsTer11 | |
| NM_001097638.2:c.810_811del | NP_001091107.1:p.Pro271CysfsTer11 | |
| NR_131188.1:n.83_84del | ||
| NM_000511.6:c.810_811del MANE Select | NP_000502.4:p.Pro271CysfsTer11 | |
| NM_001097638.3:c.810_811del | NP_001091107.1:p.Pro271CysfsTer11 |