Linked Data
gnomAD v3:
14-53952385-A-ACCCCCCCCCCCCCCCCCCCCCC
gnomAD v4:
14-53952385-A-ACCCCCCCCCCCCCCCCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53952387_53952388insCCCCCCCCCCCCCCCCCCCCCC , CM000676.2:g.53952387_53952388insCCCCCCCCCCCCCCCCCCCCCC | GRCh38 |
| NC_000014.8:g.54419105_54419106insCCCCCCCCCCCCCCCCCCCCCC , CM000676.1:g.54419105_54419106insCCCCCCCCCCCCCCCCCCCCCC | GRCh37 |
| NC_000014.7:g.53488855_53488856insCCCCCCCCCCCCCCCCCCCCCC | NCBI36 |
| NG_009215.1:g.9451_9452insGGGGGGGGGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245451.9:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG MANE Select | ENSP00000245451.4:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000245451.8:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | ENSP00000245451.4:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000417573.5:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | ENSP00000394165.1:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000558984.1:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | ENSP00000454134.1:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000559087.5:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | ENSP00000453485.1:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000559501.1:c.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGGG | ENSP00000453365.1:n.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGG... | |
| ENST00000559642.1:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | ENSP00000453467.1:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001202.3:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | NP_001193.2:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_130850.2:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | NP_570911.2:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_130851.2:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | NP_570912.2:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| XM_005268015.3:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | XP_005268072.1:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001202.5:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | NP_001193.2:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001347912.1:c.188-210_188-209insGGGGGGGGGGGGGGGGGGGGGG | NP_001334841.1:n.188-210_188-209insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001347913.1:c.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGGG | NP_001334842.1:n.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001347914.1:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | NP_001334843.1:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001347915.1:c.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGGG | NP_001334844.1:n.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001347916.1:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | NP_001334845.1:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001347917.1:c.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGGG | NP_001334846.1:n.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_130850.4:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | NP_570911.2:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_130851.3:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | NP_570912.2:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001202.6:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG MANE Select | NP_001193.2:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_130850.5:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | NP_570911.2:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001347913.2:c.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGGG | NP_001334842.1:n.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001347914.2:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | NP_001334843.1:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_001347915.2:c.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGGG | NP_001334844.1:n.-143-210_-143-209insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_130851.4:c.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG | NP_570912.2:n.-7-157_-7-156insGGGGGGGGGGGGGGGGGGGGGG |