Linked Data
dbSNP Id:
rs1472320675
gnomAD v3:
7-87530857-G-GAAAA
gnomAD v4:
7-87530857-G-GAAAA
MyVariant Identifiers:
chr7:g.87160173_87160174insAAAA (hg19)
chr7:g.87530857_87530858insAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87530860_87530861insAAAA , CM000669.2:g.87530860_87530861insAAAA | GRCh38 |
| NC_000007.13:g.87160176_87160177insAAAA , CM000669.1:g.87160176_87160177insAAAA | GRCh37 |
| NC_000007.12:g.86998112_86998113insAAAA | NCBI36 |
| NG_011513.1:g.187391_187392insTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2685+436_2685+437insTTTT | ENSP00000265724.3:n.2685+436_2685+437insTTTT | |
| ENST00000622132.5:c.2685+436_2685+437insTTTT MANE Select | ENSP00000478255.1:n.2685+436_2685+437insTTTT | |
| ENST00000265724.7:c.2685+436_2685+437insTTTT | ENSP00000265724.3:n.2685+436_2685+437insTTTT | |
| ENST00000488737.6:n.327+436_327+437insTTTT | ||
| ENST00000496821.5:n.313+436_313+437insTTTT | ||
| ENST00000543898.5:c.2493+436_2493+437insTTTT | ENSP00000444095.1:n.2493+436_2493+437insTTTT | |
| ENST00000622132.4:c.2685+436_2685+437insTTTT | ENSP00000478255.1:n.2685+436_2685+437insTTTT | |
| NM_000927.4:c.2685+436_2685+437insTTTT | NP_000918.2:n.2685+436_2685+437insTTTT | |
| NM_001348944.1:c.2685+436_2685+437insTTTT | NP_001335873.1:n.2685+436_2685+437insTTTT | |
| NM_001348945.1:c.2895+436_2895+437insTTTT | NP_001335874.1:n.2895+436_2895+437insTTTT | |
| NM_001348946.1:c.2685+436_2685+437insTTTT | NP_001335875.1:n.2685+436_2685+437insTTTT | |
| NM_001348946.2:c.2685+436_2685+437insTTTT MANE Select | NP_001335875.1:n.2685+436_2685+437insTTTT | |
| NM_000927.5:c.2685+436_2685+437insTTTT | NP_000918.2:n.2685+436_2685+437insTTTT | |
| NM_001348944.2:c.2685+436_2685+437insTTTT | NP_001335873.1:n.2685+436_2685+437insTTTT | |
| NM_001348945.2:c.2895+436_2895+437insTTTT | NP_001335874.1:n.2895+436_2895+437insTTTT |