Linked Data
ClinVar Variation Id:
313339
dbSNP Id:
rs796563569
gnomAD v2:
14-54416601-C-CAT
gnomAD v3:
14-53949883-C-CAT
gnomAD v4:
14-53949883-C-CAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53949883_53949884insAT , CM000676.2:g.53949883_53949884insAT | GRCh38 |
| NC_000014.8:g.54416601_54416602insAT , CM000676.1:g.54416601_54416602insAT | GRCh37 |
| NC_000014.7:g.53486351_53486352insAT | NCBI36 |
| NG_009215.1:g.11953_11954insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245451.9:c.*148_*149insAT MANE Select | ENSP00000245451.4:n.*148_*149insAT | |
| ENST00000245451.8:c.*148_*149insAT | ENSP00000245451.4:n.*148_*149insAT | |
| ENST00000417573.5:c.*148_*149insAT | ENSP00000394165.1:n.*148_*149insAT | |
| ENST00000558984.1:c.*148_*149insAT | ENSP00000454134.1:n.*148_*149insAT | |
| ENST00000559087.5:c.*148_*149insAT | ENSP00000453485.1:n.*148_*149insAT | |
| NM_001202.3:c.*148_*149insAT | NP_001193.2:n.*148_*149insAT | |
| NM_130850.2:c.*148_*149insAT | NP_570911.2:n.*148_*149insAT | |
| NM_130851.2:c.*148_*149insAT | NP_570912.2:n.*148_*149insAT | |
| XM_005268015.3:c.*148_*149insAT | XP_005268072.1:n.*148_*149insAT | |
| NM_001202.5:c.*148_*149insAT | NP_001193.2:n.*148_*149insAT | |
| NM_001347912.1:c.*148_*149insAT | NP_001334841.1:n.*148_*149insAT | |
| NM_001347913.1:c.*148_*149insAT | NP_001334842.1:n.*148_*149insAT | |
| NM_001347914.1:c.*148_*149insAT | NP_001334843.1:n.*148_*149insAT | |
| NM_001347915.1:c.*148_*149insAT | NP_001334844.1:n.*148_*149insAT | |
| NM_001347916.1:c.*148_*149insAT | NP_001334845.1:n.*148_*149insAT | |
| NM_001347917.1:c.*148_*149insAT | NP_001334846.1:n.*148_*149insAT | |
| NM_130850.4:c.*148_*149insAT | NP_570911.2:n.*148_*149insAT | |
| NM_130851.3:c.*148_*149insAT | NP_570912.2:n.*148_*149insAT | |
| NM_001202.6:c.*148_*149insAT MANE Select | NP_001193.2:n.*148_*149insAT | |
| NM_130850.5:c.*148_*149insAT | NP_570911.2:n.*148_*149insAT | |
| NM_001347913.2:c.*148_*149insAT | NP_001334842.1:n.*148_*149insAT | |
| NM_001347914.2:c.*148_*149insAT | NP_001334843.1:n.*148_*149insAT | |
| NM_001347915.2:c.*148_*149insAT | NP_001334844.1:n.*148_*149insAT | |
| NM_130851.4:c.*148_*149insAT | NP_570912.2:n.*148_*149insAT |