Linked Data
dbSNP Id:
rs1440320257
gnomAD v3:
9-133644254-G-GGGGGTCC
gnomAD v4:
9-133644254-G-GGGGGTCC
MyVariant Identifiers:
chr9:g.136509376_136509377insGGGGTCC (hg19)
chr9:g.133644254_133644255insGGGGTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644255_133644261dup , CM000671.2:g.133644255_133644261dup | GRCh38 |
| NC_000009.11:g.136509377_136509383dup , CM000671.1:g.136509377_136509383dup | GRCh37 |
| NC_000009.10:g.135499198_135499204dup | NCBI36 |
| NG_008645.1:g.12893_12899dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.959_965dup MANE Select | ENSP00000376776.2:p.Ser325ArgfsTer? | |
| ENST00000393056.6:c.959_965dup | ENSP00000376776.2:p.Ser325ArgfsTer? | |
| NM_000787.3:c.959_965dup | NP_000778.3:p.Ser325ArgfsTer? | |
| NM_000787.4:c.959_965dup MANE Select | NP_000778.3:p.Ser325ArgfsTer? |