Linked Data
dbSNP Id:
rs1566537128
gnomAD v2:
14-23900719-GT-G
gnomAD v4:
14-23431510-GT-G
MyVariant Identifiers:
chr14:g.23900720del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431512del , CM000676.2:g.23431512del | GRCh38 |
| NC_000014.8:g.23900721del , CM000676.1:g.23900721del | GRCh37 |
| NC_000014.7:g.22970561del | NCBI36 |
| NG_007884.1:g.9151del , LRG_384:g.9151del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.733-30del MANE Select | ENSP00000347507.3:n.733-30del | |
| ENST00000355349.3:c.733-30del | ENSP00000347507.3:n.733-30del | |
| NM_000257.3:c.733-30del | NP_000248.2:n.733-30del | |
| XR_245686.3:n.839-30del | ||
| XM_017021340.1:c.733-30del | XP_016876829.1:n.733-30del | |
| NM_000257.4:c.733-30del MANE Select | NP_000248.2:n.733-30del |