Linked Data
dbSNP Id:
rs1442768350
gnomAD v2:
14-23903166-TG-T
gnomAD v3:
14-23433957-TG-T
gnomAD v4:
14-23433957-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23433961del , CM000676.2:g.23433961del | GRCh38 |
| NC_000014.8:g.23903170del , CM000676.1:g.23903170del | GRCh37 |
| NC_000014.7:g.22973010del | NCBI36 |
| NG_007884.1:g.6704del , LRG_384:g.6704del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.-8-218del MANE Select | ENSP00000347507.3:n.-8-218del | |
| ENST00000355349.3:c.-8-218del | ENSP00000347507.3:n.-8-218del | |
| NM_000257.3:c.-8-218del | NP_000248.2:n.-8-218del | |
| XR_245686.3:n.99-218del | ||
| XM_017021340.1:c.-8-218del | XP_016876829.1:n.-8-218del | |
| NM_000257.4:c.-8-218del MANE Select | NP_000248.2:n.-8-218del |