Linked Data
dbSNP Id:
rs1300680854
gnomAD v2:
7-87160130-C-CAAGAAAGA
gnomAD v3:
7-87530814-C-CAAGAAAGA
gnomAD v4:
7-87530814-C-CAAGAAAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87530821_87530822insAAAGAAAG , CM000669.2:g.87530821_87530822insAAAGAAAG | GRCh38 |
| NC_000007.13:g.87160137_87160138insAAAGAAAG , CM000669.1:g.87160137_87160138insAAAGAAAG | GRCh37 |
| NC_000007.12:g.86998073_86998074insAAAGAAAG | NCBI36 |
| NG_011513.1:g.187434_187435insTCTTTCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2685+479_2685+480insTCTTTCTT | ENSP00000265724.3:n.2685+479_2685+480insTCTTTCTT | |
| ENST00000622132.5:c.2685+479_2685+480insTCTTTCTT MANE Select | ENSP00000478255.1:n.2685+479_2685+480insTCTTTCTT | |
| ENST00000265724.7:c.2685+479_2685+480insTCTTTCTT | ENSP00000265724.3:n.2685+479_2685+480insTCTTTCTT | |
| ENST00000488737.6:n.327+479_327+480insTCTTTCTT | ||
| ENST00000496821.5:n.313+479_313+480insTCTTTCTT | ||
| ENST00000543898.5:c.2493+479_2493+480insTCTTTCTT | ENSP00000444095.1:n.2493+479_2493+480insTCTTTCTT | |
| ENST00000622132.4:c.2685+479_2685+480insTCTTTCTT | ENSP00000478255.1:n.2685+479_2685+480insTCTTTCTT | |
| NM_000927.4:c.2685+479_2685+480insTCTTTCTT | NP_000918.2:n.2685+479_2685+480insTCTTTCTT | |
| NM_001348944.1:c.2685+479_2685+480insTCTTTCTT | NP_001335873.1:n.2685+479_2685+480insTCTTTCTT | |
| NM_001348945.1:c.2895+479_2895+480insTCTTTCTT | NP_001335874.1:n.2895+479_2895+480insTCTTTCTT | |
| NM_001348946.1:c.2685+479_2685+480insTCTTTCTT | NP_001335875.1:n.2685+479_2685+480insTCTTTCTT | |
| NM_001348946.2:c.2685+479_2685+480insTCTTTCTT MANE Select | NP_001335875.1:n.2685+479_2685+480insTCTTTCTT | |
| NM_000927.5:c.2685+479_2685+480insTCTTTCTT | NP_000918.2:n.2685+479_2685+480insTCTTTCTT | |
| NM_001348944.2:c.2685+479_2685+480insTCTTTCTT | NP_001335873.1:n.2685+479_2685+480insTCTTTCTT | |
| NM_001348945.2:c.2895+479_2895+480insTCTTTCTT | NP_001335874.1:n.2895+479_2895+480insTCTTTCTT |