Linked Data
dbSNP Id:
rs1466268871
gnomAD v4:
18-31595009-C-CATAACATGTTT
MyVariant Identifiers:
chr18:g.29174972_29174973insATAACATGTTT (hg19)
chr18:g.31595009_31595010insATAACATGTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595023_31595033dup , CM000680.2:g.31595023_31595033dup | GRCh38 |
| NC_000018.9:g.29174986_29174996dup , CM000680.1:g.29174986_29174996dup | GRCh37 |
| NC_000018.8:g.27428984_27428994dup | NCBI36 |
| NG_009490.1:g.8257_8267dup , LRG_416:g.8257_8267dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.201-97_201-87dup MANE Select | ENSP00000237014.4:n.201-97_201-87dup | |
| ENST00000610404.5:c.105-97_105-87dup | ENSP00000477599.2:n.105-97_105-87dup | |
| ENST00000649620.1:c.201-97_201-87dup | ENSP00000497927.1:n.201-97_201-87dup | |
| ENST00000237014.7:c.201-97_201-87dup | ENSP00000237014.3:n.201-97_201-87dup | |
| ENST00000541025.2:n.227-97_227-87dup | ||
| ENST00000610404.4:c.201-97_201-87dup | ENSP00000477599.1:n.201-97_201-87dup | |
| ENST00000613781.1:c.201-97_201-87dup | ENSP00000479174.1:n.201-97_201-87dup | |
| NM_000371.3:c.201-97_201-87dup , LRG_416t1:c.201-97_201-87dup | NP_000362.1:n.201-97_201-87dup | |
| NM_000371.4:c.201-97_201-87dup MANE Select | NP_000362.1:n.201-97_201-87dup |