Linked Data
dbSNP Id:
rs767467200
ExAC:
7:128485132 C / CACA
gnomAD v2:
7-128485132-C-CACA
gnomAD v4:
7-128845078-C-CACA
MyVariant Identifiers:
chr7:g.128485132_128485133insACA (hg19)
chr7:g.128845078_128845079insACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128845084_128845086dup , CM000669.2:g.128845084_128845086dup | GRCh38 |
| NC_000007.13:g.128485138_128485140dup , CM000669.1:g.128485138_128485140dup | GRCh37 |
| NC_000007.12:g.128272374_128272376dup | NCBI36 |
| NG_011807.1:g.19656_19658dup , LRG_870:g.19656_19658dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.3619_3621dup MANE Select | ENSP00000327145.8:p.Asn1207_Ala1208insAsn | |
| ENST00000325888.12:c.3619_3621dup | ENSP00000327145.8:p.Asn1207_Ala1208insAsn | |
| ENST00000346177.6:c.3619_3621dup | ENSP00000344002.6:p.Asn1207_Ala1208insAsn | |
| NM_001127487.1:c.3619_3621dup | NP_001120959.1:p.Asn1207_Ala1208insAsn | |
| NM_001458.4:c.3619_3621dup , LRG_870t1:c.3619_3621dup | NP_001449.3:p.Asn1207_Ala1208insAsn | |
| NM_001127487.2:c.3619_3621dup | NP_001120959.1:p.Asn1207_Ala1208insAsn | |
| NM_001458.5:c.3619_3621dup MANE Select | NP_001449.3:p.Asn1207_Ala1208insAsn |