Linked Data
dbSNP Id:
rs1554428223
MyVariant Identifiers:
chr7:g.87160173_87160174insAAAGAA (hg19)
chr7:g.87530857_87530858insAAAGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87530859_87530864dup , CM000669.2:g.87530859_87530864dup | GRCh38 |
| NC_000007.13:g.87160175_87160180dup , CM000669.1:g.87160175_87160180dup | GRCh37 |
| NC_000007.12:g.86998111_86998116dup | NCBI36 |
| NG_011513.1:g.187386_187391dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2685+431_2685+436dup | ENSP00000265724.3:n.2685+431_2685+436dup | |
| ENST00000622132.5:c.2685+431_2685+436dup MANE Select | ENSP00000478255.1:n.2685+431_2685+436dup | |
| ENST00000265724.7:c.2685+431_2685+436dup | ENSP00000265724.3:n.2685+431_2685+436dup | |
| ENST00000488737.6:n.327+431_327+436dup | ||
| ENST00000496821.5:n.313+431_313+436dup | ||
| ENST00000543898.5:c.2493+431_2493+436dup | ENSP00000444095.1:n.2493+431_2493+436dup | |
| ENST00000622132.4:c.2685+431_2685+436dup | ENSP00000478255.1:n.2685+431_2685+436dup | |
| NM_000927.4:c.2685+431_2685+436dup | NP_000918.2:n.2685+431_2685+436dup | |
| NM_001348944.1:c.2685+431_2685+436dup | NP_001335873.1:n.2685+431_2685+436dup | |
| NM_001348945.1:c.2895+431_2895+436dup | NP_001335874.1:n.2895+431_2895+436dup | |
| NM_001348946.1:c.2685+431_2685+436dup | NP_001335875.1:n.2685+431_2685+436dup | |
| NM_001348946.2:c.2685+431_2685+436dup MANE Select | NP_001335875.1:n.2685+431_2685+436dup | |
| NM_000927.5:c.2685+431_2685+436dup | NP_000918.2:n.2685+431_2685+436dup | |
| NM_001348944.2:c.2685+431_2685+436dup | NP_001335873.1:n.2685+431_2685+436dup | |
| NM_001348945.2:c.2895+431_2895+436dup | NP_001335874.1:n.2895+431_2895+436dup |