Linked Data
dbSNP Id:
rs1392156376
gnomAD v2:
7-94052245-A-ATGACCT
gnomAD v3:
7-94422933-A-ATGACCT
gnomAD v4:
7-94422933-A-ATGACCT
MyVariant Identifiers:
chr7:g.94052245_94052246insTGACCT (hg19)
chr7:g.94422933_94422934insTGACCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94422936_94422941dup , CM000669.2:g.94422936_94422941dup | GRCh38 |
| NC_000007.13:g.94052248_94052253dup , CM000669.1:g.94052248_94052253dup | GRCh37 |
| NC_000007.12:g.93890184_93890189dup | NCBI36 |
| NG_007405.1:g.33376_33381dup , LRG_2:g.33376_33381dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2404-21_2404-16dup MANE Select | ENSP00000297268.6:n.2404-21_2404-16dup | |
| ENST00000297268.10:c.2404-21_2404-16dup | ENSP00000297268.6:n.2404-21_2404-16dup | |
| ENST00000481570.5:n.466_471dup | ||
| ENST00000497316.5:n.801-21_801-16dup | ||
| ENST00000620463.1:c.2398-21_2398-16dup | ENSP00000477719.1:n.2398-21_2398-16dup | |
| NM_000089.3:c.2404-21_2404-16dup , LRG_2t1:c.2404-21_2404-16dup | NP_000080.2:n.2404-21_2404-16dup | |
| NM_000089.4:c.2404-21_2404-16dup MANE Select | NP_000080.2:n.2404-21_2404-16dup |