Linked Data
dbSNP Id:
rs1219407626
gnomAD v2:
9-133747763-G-GGTGTGTGC
gnomAD v3:
9-130872376-G-GGTGTGTGC
gnomAD v4:
9-130872376-G-GGTGTGTGC
MyVariant Identifiers:
chr9:g.133747763_133747764insGTGTGTGC (hg19)
chr9:g.130872376_130872377insGTGTGTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872385_130872392dup , CM000671.2:g.130872385_130872392dup | GRCh38 |
| NC_000009.11:g.133747772_133747779dup , CM000671.1:g.133747772_133747779dup | GRCh37 |
| NC_000009.10:g.132737593_132737600dup | NCBI36 |
| NG_012034.1:g.163505_163512dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.964+172_964+179dup | ENSP00000361423.2:n.964+172_964+179dup | |
| ENST00000318560.6:c.907+172_907+179dup MANE Select | ENSP00000323315.5:n.907+172_907+179dup | |
| ENST00000372348.7:c.964+172_964+179dup | ENSP00000361423.2:n.964+172_964+179dup | |
| ENST00000318560.5:c.907+172_907+179dup | ENSP00000323315.5:n.907+172_907+179dup | |
| ENST00000372348.6:c.964+172_964+179dup | ENSP00000361423.2:n.964+172_964+179dup | |
| NM_005157.5:c.907+172_907+179dup | NP_005148.2:n.907+172_907+179dup | |
| NM_007313.2:c.964+172_964+179dup | NP_009297.2:n.964+172_964+179dup | |
| NM_005157.6:c.907+172_907+179dup MANE Select | NP_005148.2:n.907+172_907+179dup | |
| NM_007313.3:c.964+172_964+179dup | NP_009297.2:n.964+172_964+179dup |