Linked Data
dbSNP Id:
rs749001259
ExAC:
9:130591922 C / CCAT
gnomAD v2:
9-130591922-C-CCAT
gnomAD v3:
9-127829643-C-CCAT
gnomAD v4:
9-127829643-C-CCAT
MyVariant Identifiers:
chr9:g.130591922_130591923insCAT (hg19)
chr9:g.127829643_127829644insCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127829644_127829646dup , CM000671.2:g.127829644_127829646dup | GRCh38 |
| NC_000009.11:g.130591923_130591925dup , CM000671.1:g.130591923_130591925dup | GRCh37 |
| NC_000009.10:g.129631744_129631746dup | NCBI36 |
| NG_009551.1:g.30123_30125dup , LRG_589:g.30123_30125dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-187+41_-187+43dup | ENSP00000479015.1:n.-187+41_-187+43dup | |
| ENST00000373203.9:c.360+41_360+43dup MANE Select | ENSP00000362299.4:n.360+41_360+43dup | |
| ENST00000344849.4:c.360+41_360+43dup | ENSP00000341917.3:n.360+41_360+43dup | |
| ENST00000373203.8:c.360+41_360+43dup | ENSP00000362299.4:n.360+41_360+43dup | |
| ENST00000462196.1:n.118+41_118+43dup | ||
| ENST00000480266.5:c.-187+41_-187+43dup | ENSP00000479015.1:n.-187+41_-187+43dup | |
| NM_000118.3:c.360+41_360+43dup , LRG_589t1:c.360+41_360+43dup | NP_000109.1:n.360+41_360+43dup | |
| NM_001114753.2:c.360+41_360+43dup , LRG_589t2:c.360+41_360+43dup | NP_001108225.1:n.360+41_360+43dup | |
| NM_001278138.1:c.-187+41_-187+43dup | NP_001265067.1:n.-187+41_-187+43dup | |
| XR_001746952.2:n.83-2754_83-2752dup | ||
| NM_001114753.3:c.360+41_360+43dup MANE Select | NP_001108225.1:n.360+41_360+43dup | |
| NM_001278138.2:c.-187+41_-187+43dup | NP_001265067.1:n.-187+41_-187+43dup |