Linked Data
gnomAD v2:
7-87160117-G-GAAAGCAAA
MyVariant Identifiers:
chr7:g.87160117_87160118insAAAGCAAA (hg19)
chr7:g.87530801_87530802insAAAGCAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87530808_87530809insAAAAGCAA , CM000669.2:g.87530808_87530809insAAAAGCAA | GRCh38 |
| NC_000007.13:g.87160124_87160125insAAAAGCAA , CM000669.1:g.87160124_87160125insAAAAGCAA | GRCh37 |
| NC_000007.12:g.86998060_86998061insAAAAGCAA | NCBI36 |
| NG_011513.1:g.187447_187448insTTTGCTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2685+492_2685+493insTTTGCTTT | ENSP00000265724.3:n.2685+492_2685+493insTTTGCTTT | |
| ENST00000622132.5:c.2685+492_2685+493insTTTGCTTT MANE Select | ENSP00000478255.1:n.2685+492_2685+493insTTTGCTTT | |
| ENST00000265724.7:c.2685+492_2685+493insTTTGCTTT | ENSP00000265724.3:n.2685+492_2685+493insTTTGCTTT | |
| ENST00000488737.6:n.327+492_327+493insTTTGCTTT | ||
| ENST00000496821.5:n.313+492_313+493insTTTGCTTT | ||
| ENST00000543898.5:c.2493+492_2493+493insTTTGCTTT | ENSP00000444095.1:n.2493+492_2493+493insTTTGCTTT | |
| ENST00000622132.4:c.2685+492_2685+493insTTTGCTTT | ENSP00000478255.1:n.2685+492_2685+493insTTTGCTTT | |
| NM_000927.4:c.2685+492_2685+493insTTTGCTTT | NP_000918.2:n.2685+492_2685+493insTTTGCTTT | |
| NM_001348944.1:c.2685+492_2685+493insTTTGCTTT | NP_001335873.1:n.2685+492_2685+493insTTTGCTTT | |
| NM_001348945.1:c.2895+492_2895+493insTTTGCTTT | NP_001335874.1:n.2895+492_2895+493insTTTGCTTT | |
| NM_001348946.1:c.2685+492_2685+493insTTTGCTTT | NP_001335875.1:n.2685+492_2685+493insTTTGCTTT | |
| NM_001348946.2:c.2685+492_2685+493insTTTGCTTT MANE Select | NP_001335875.1:n.2685+492_2685+493insTTTGCTTT | |
| NM_000927.5:c.2685+492_2685+493insTTTGCTTT | NP_000918.2:n.2685+492_2685+493insTTTGCTTT | |
| NM_001348944.2:c.2685+492_2685+493insTTTGCTTT | NP_001335873.1:n.2685+492_2685+493insTTTGCTTT | |
| NM_001348945.2:c.2895+492_2895+493insTTTGCTTT | NP_001335874.1:n.2895+492_2895+493insTTTGCTTT |