Linked Data
dbSNP Id:
rs1376573110
gnomAD v3:
7-87530822-C-CAAGA
gnomAD v4:
7-87530822-C-CAAGA
MyVariant Identifiers:
chr7:g.87160138_87160139insAAGA (hg19)
chr7:g.87530822_87530823insAAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87530826_87530829dup , CM000669.2:g.87530826_87530829dup | GRCh38 |
| NC_000007.13:g.87160142_87160145dup , CM000669.1:g.87160142_87160145dup | GRCh37 |
| NC_000007.12:g.86998078_86998081dup | NCBI36 |
| NG_011513.1:g.187423_187426dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2685+468_2685+471dup | ENSP00000265724.3:n.2685+468_2685+471dup | |
| ENST00000622132.5:c.2685+468_2685+471dup MANE Select | ENSP00000478255.1:n.2685+468_2685+471dup | |
| ENST00000265724.7:c.2685+468_2685+471dup | ENSP00000265724.3:n.2685+468_2685+471dup | |
| ENST00000488737.6:n.327+468_327+471dup | ||
| ENST00000496821.5:n.313+468_313+471dup | ||
| ENST00000543898.5:c.2493+468_2493+471dup | ENSP00000444095.1:n.2493+468_2493+471dup | |
| ENST00000622132.4:c.2685+468_2685+471dup | ENSP00000478255.1:n.2685+468_2685+471dup | |
| NM_000927.4:c.2685+468_2685+471dup | NP_000918.2:n.2685+468_2685+471dup | |
| NM_001348944.1:c.2685+468_2685+471dup | NP_001335873.1:n.2685+468_2685+471dup | |
| NM_001348945.1:c.2895+468_2895+471dup | NP_001335874.1:n.2895+468_2895+471dup | |
| NM_001348946.1:c.2685+468_2685+471dup | NP_001335875.1:n.2685+468_2685+471dup | |
| NM_001348946.2:c.2685+468_2685+471dup MANE Select | NP_001335875.1:n.2685+468_2685+471dup | |
| NM_000927.5:c.2685+468_2685+471dup | NP_000918.2:n.2685+468_2685+471dup | |
| NM_001348944.2:c.2685+468_2685+471dup | NP_001335873.1:n.2685+468_2685+471dup | |
| NM_001348945.2:c.2895+468_2895+471dup | NP_001335874.1:n.2895+468_2895+471dup |