Linked Data
dbSNP Id:
rs780556986
ExAC:
9:130591916 G / GAC
gnomAD v2:
9-130591916-G-GAC
gnomAD v4:
9-127829637-G-GAC
MyVariant Identifiers:
chr9:g.130591916_130591917insAC (hg19)
chr9:g.127829637_127829638insAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127829638_127829639dup , CM000671.2:g.127829638_127829639dup | GRCh38 |
| NC_000009.11:g.130591917_130591918dup , CM000671.1:g.130591917_130591918dup | GRCh37 |
| NC_000009.10:g.129631738_129631739dup | NCBI36 |
| NG_009551.1:g.30130_30131dup , LRG_589:g.30130_30131dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-187+48_-187+49dup | ENSP00000479015.1:n.-187+48_-187+49dup | |
| ENST00000373203.9:c.360+48_360+49dup MANE Select | ENSP00000362299.4:n.360+48_360+49dup | |
| ENST00000344849.4:c.360+48_360+49dup | ENSP00000341917.3:n.360+48_360+49dup | |
| ENST00000373203.8:c.360+48_360+49dup | ENSP00000362299.4:n.360+48_360+49dup | |
| ENST00000462196.1:n.118+48_118+49dup | ||
| ENST00000480266.5:c.-187+48_-187+49dup | ENSP00000479015.1:n.-187+48_-187+49dup | |
| NM_000118.3:c.360+48_360+49dup , LRG_589t1:c.360+48_360+49dup | NP_000109.1:n.360+48_360+49dup | |
| NM_001114753.2:c.360+48_360+49dup , LRG_589t2:c.360+48_360+49dup | NP_001108225.1:n.360+48_360+49dup | |
| NM_001278138.1:c.-187+48_-187+49dup | NP_001265067.1:n.-187+48_-187+49dup | |
| XR_001746952.2:n.83-2760_83-2759dup | ||
| NM_001114753.3:c.360+48_360+49dup MANE Select | NP_001108225.1:n.360+48_360+49dup | |
| NM_001278138.2:c.-187+48_-187+49dup | NP_001265067.1:n.-187+48_-187+49dup |