Linked Data
dbSNP Id:
rs1169350276
gnomAD v2:
7-128489291-G-GTC
MyVariant Identifiers:
chr7:g.128489291_128489292insTC (hg19)
chr7:g.128849237_128849238insTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128849237_128849238insTC , CM000669.2:g.128849237_128849238insTC | GRCh38 |
| NC_000007.13:g.128489291_128489292insTC , CM000669.1:g.128489291_128489292insTC | GRCh37 |
| NC_000007.12:g.128276527_128276528insTC | NCBI36 |
| NG_011807.1:g.23809_23810insTC , LRG_870:g.23809_23810insTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.4951+33_4951+34insTC MANE Select | ENSP00000327145.8:n.4951+33_4951+34insTC | |
| ENST00000325888.12:c.4951+33_4951+34insTC | ENSP00000327145.8:n.4951+33_4951+34insTC | |
| ENST00000346177.6:c.4951+33_4951+34insTC | ENSP00000344002.6:n.4951+33_4951+34insTC | |
| NM_001127487.1:c.4951+33_4951+34insTC | NP_001120959.1:n.4951+33_4951+34insTC | |
| NM_001458.4:c.4951+33_4951+34insTC , LRG_870t1:c.4951+33_4951+34insTC | NP_001449.3:n.4951+33_4951+34insTC | |
| NM_001127487.2:c.4951+33_4951+34insTC | NP_001120959.1:n.4951+33_4951+34insTC | |
| NM_001458.5:c.4951+33_4951+34insTC MANE Select | NP_001449.3:n.4951+33_4951+34insTC |