Linked Data
dbSNP Id:
rs747124132
gnomAD v2:
8-118155000-C-CAGGA
gnomAD v3:
8-117142761-C-CAGGA
gnomAD v4:
8-117142761-C-CAGGA
MyVariant Identifiers:
chr8:g.118155000_118155001insAGGA (hg19)
chr8:g.117142761_117142762insAGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117142761_117142762insAGGA , CM000670.2:g.117142761_117142762insAGGA | GRCh38 |
| NC_000008.10:g.118155000_118155001insAGGA , CM000670.1:g.118155000_118155001insAGGA | GRCh37 |
| NC_000008.9:g.118224181_118224182insAGGA | NCBI36 |
| NG_016991.1:g.197489_197490insAGGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456015.7:c.72-4193_72-4192insAGGA MANE Select | ENSP00000415011.2:n.72-4193_72-4192insAGG... | |
| ENST00000427715.2:c.-106-4058_-106-4057insAGGA | ENSP00000407505.2:n.-106-4058_-106-4057in... | |
| ENST00000456015.6:c.72-4193_72-4192insAGGA | ENSP00000415011.2:n.72-4193_72-4192insAGG... | |
| ENST00000518396.5:c.-106-4058_-106-4057insAGGA | ENSP00000485167.1:n.-106-4058_-106-4057in... | |
| ENST00000518521.5:c.-76-4193_-76-4192insAGGA | ENSP00000485566.1:n.-76-4193_-76-4192insA... | |
| ENST00000519688.5:c.-106-4058_-106-4057insAGGA | ENSP00000431069.1:n.-106-4058_-106-4057in... | |
| ENST00000520469.1:n.326-4193_326-4192insAGGA | ||
| ENST00000521035.5:n.462-4058_462-4057insAGGA | ||
| ENST00000521243.5:c.-106-4058_-106-4057insAGGA | ENSP00000428545.1:n.-106-4058_-106-4057in... | |
| ENST00000524274.5:c.-106-4058_-106-4057insAGGA | ENSP00000427760.1:n.-106-4058_-106-4057in... | |
| NM_001172811.1:c.-106-4058_-106-4057insAGGA | NP_001166282.1:n.-106-4058_-106-4057insAG... | |
| NM_001172813.1:c.-106-4058_-106-4057insAGGA | NP_001166284.1:n.-106-4058_-106-4057insAG... | |
| NM_001172814.1:c.-106-4058_-106-4057insAGGA | NP_001166285.1:n.-106-4058_-106-4057insAG... | |
| NM_001172815.1:c.-106-4058_-106-4057insAGGA | NP_001166286.1:n.-106-4058_-106-4057insAG... | |
| NM_173851.2:c.72-4193_72-4192insAGGA | NP_776250.2:n.72-4193_72-4192insAGGA | |
| XM_011516881.1:c.72-4193_72-4192insAGGA | XP_011515183.1:n.72-4193_72-4192insAGGA | |
| XR_928569.1:n.1020+29853_1020+29854insTCCT | ||
| XR_928570.1:n.1021-24976_1021-24975insTCCT | ||
| NM_001172815.2:c.-106-4058_-106-4057insAGGA | NP_001166286.1:n.-106-4058_-106-4057insAG... | |
| XM_024447083.1:c.-106-4058_-106-4057insAGGA | XP_024302851.1:n.-106-4058_-106-4057insAG... | |
| XR_928569.2:n.973+29853_973+29854insTCCT | ||
| XR_928570.2:n.974-24976_974-24975insTCCT | ||
| NM_001172811.2:c.-106-4058_-106-4057insAGGA | NP_001166282.1:n.-106-4058_-106-4057insAG... | |
| NM_001172813.2:c.-106-4058_-106-4057insAGGA | NP_001166284.1:n.-106-4058_-106-4057insAG... | |
| NM_001172814.2:c.-106-4058_-106-4057insAGGA | NP_001166285.1:n.-106-4058_-106-4057insAG... | |
| NM_173851.3:c.72-4193_72-4192insAGGA MANE Select | NP_776250.2:n.72-4193_72-4192insAGGA | |
| NM_001172815.3:c.-106-4058_-106-4057insAGGA | NP_001166286.1:n.-106-4058_-106-4057insAG... |