Linked Data
dbSNP Id:
rs908282116
gnomAD v2:
2-3596745-A-ATG
gnomAD v3:
2-3549155-A-ATG
gnomAD v4:
2-3549155-A-ATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3549156_3549157insGT , CM000664.2:g.3549156_3549157insGT | GRCh38 |
| NC_000002.11:g.3596746_3596747insGT , CM000664.1:g.3596746_3596747insGT | GRCh37 |
| NC_000002.10:g.3574621_3574622insGT | NCBI36 |
| NG_051310.1:g.14216_14217insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315212.4:c.510-44_510-43insCA MANE Select | ENSP00000313350.3:n.510-44_510-43insCA | |
| ENST00000654051.1:c.510-44_510-43insCA | ENSP00000499604.1:n.510-44_510-43insCA | |
| ENST00000658393.1:c.510-44_510-43insCA | ENSP00000499330.1:n.510-44_510-43insCA | |
| ENST00000315212.3:c.510-44_510-43insCA | ENSP00000313350.3:n.510-44_510-43insCA | |
| ENST00000436842.5:c.*616-44_*616-43insCA | ENSP00000404926.1:n.*616-44_*616-43insCA | |
| NM_001286834.1:c.432-44_432-43insCA | NP_001273763.1:n.432-44_432-43insCA | |
| NM_001286837.1:c.159-44_159-43insCA | NP_001273766.1:n.159-44_159-43insCA | |
| NM_002936.4:c.510-44_510-43insCA | NP_002927.2:n.510-44_510-43insCA | |
| XR_244873.1:n.617-44_617-43insCA | ||
| XR_922665.1:n.617-44_617-43insCA | ||
| XR_922666.1:n.617-44_617-43insCA | ||
| XR_922667.1:n.617-44_617-43insCA | ||
| XR_922668.1:n.617-44_617-43insCA | ||
| XR_922669.1:n.617-44_617-43insCA | ||
| XR_922670.1:n.617-44_617-43insCA | ||
| XR_922671.1:n.617-44_617-43insCA | ||
| XR_922672.1:n.617-44_617-43insCA | ||
| XR_922673.1:n.617-44_617-43insCA | ||
| XR_922674.1:n.617-44_617-43insCA | ||
| NM_001286834.2:c.432-44_432-43insCA | NP_001273763.1:n.432-44_432-43insCA | |
| NM_001286837.2:c.159-44_159-43insCA | NP_001273766.1:n.159-44_159-43insCA | |
| NM_002936.5:c.510-44_510-43insCA | NP_002927.2:n.510-44_510-43insCA | |
| NR_148532.1:n.621-44_621-43insCA | ||
| NR_148533.1:n.621-44_621-43insCA | ||
| NR_148534.1:n.621-44_621-43insCA | ||
| NM_001286837.3:c.159-44_159-43insCA | NP_001273766.1:n.159-44_159-43insCA | |
| NR_148532.2:n.583-44_583-43insCA | ||
| NR_148533.2:n.583-44_583-43insCA | ||
| NR_148534.2:n.583-44_583-43insCA | ||
| NM_001286834.3:c.432-44_432-43insCA | NP_001273763.1:n.432-44_432-43insCA | |
| NM_001378271.1:c.510-44_510-43insCA | NP_001365200.1:n.510-44_510-43insCA | |
| NM_001378272.1:c.507-44_507-43insCA | NP_001365201.1:n.507-44_507-43insCA | |
| NM_001378273.1:c.510-59_510-58insCA | NP_001365202.1:n.510-59_510-58insCA | |
| NM_002936.6:c.510-44_510-43insCA MANE Select | NP_002927.2:n.510-44_510-43insCA | |
| NR_165465.1:n.467-44_467-43insCA | ||
| NR_165466.1:n.583-75_583-74insCA | ||
| NR_165467.1:n.752-44_752-43insCA | ||
| NR_165468.1:n.555-44_555-43insCA |