Linked Data
dbSNP Id:
rs1756207537
gnomAD v3:
5-1414408-T-TGGGTGGGGGGCCG
gnomAD v4:
5-1414408-T-TGGGTGGGGGGCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414410_1414411insGTGGGGGGCCGGG , CM000667.2:g.1414410_1414411insGTGGGGGGCCGGG | GRCh38 |
| NC_000005.9:g.1414525_1414526insGTGGGGGGCCGGG , CM000667.1:g.1414525_1414526insGTGGGGGGCCGGG | GRCh37 |
| NC_000005.8:g.1467525_1467526insGTGGGGGGCCGGG | NCBI36 |
| NG_015885.1:g.36020_36021insCGGCCCCCCACCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+282_1156+283insCGGCCCCCCACCC MANE Select | ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCACCC | |
| ENST00000270349.11:c.1156+282_1156+283insCGGCCCCCCACCC | ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCACCC | |
| NM_001044.4:c.1156+282_1156+283insCGGCCCCCCACCC | NP_001035.1:n.1156+282_1156+283insCGGCCCCCCACCC | |
| NM_001044.5:c.1156+282_1156+283insCGGCCCCCCACCC MANE Select | NP_001035.1:n.1156+282_1156+283insCGGCCCCCCACCC |