Linked Data
dbSNP Id:
rs755245295
gnomAD v2:
6-35773711-C-CATCCCCTCT
gnomAD v3:
6-35805934-C-CATCCCCTCT
gnomAD v4:
6-35805934-C-CATCCCCTCT
MyVariant Identifiers:
chr6:g.35773711_35773712insATCCCCTCT (hg19)
chr6:g.35805934_35805935insATCCCCTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35805936_35805944dup , CM000668.2:g.35805936_35805944dup | GRCh38 |
| NC_000006.11:g.35773713_35773721dup , CM000668.1:g.35773713_35773721dup | GRCh37 |
| NC_000006.10:g.35881691_35881699dup | NCBI36 |
| NG_012184.1:g.5643_5651dup | |
| NG_012184.2:g.5643_5651dup | |
| NG_012184.3:g.13731_13739dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.266_274dup MANE Select | ENSP00000353346.1:p.Ser91_Arg92insIleProSer | |
| ENST00000651132.1:c.266_274dup | ENSP00000498322.1:p.Ser91_Arg92insIleProSer | |
| ENST00000651676.1:c.266_274dup | ENSP00000498699.1:p.Ser91_Arg92insIleProSer | |
| ENST00000651994.1:c.266_274dup | ENSP00000498310.1:p.Ser91_Arg92insIleProSer | |
| ENST00000652718.1:c.98_106dup | ENSP00000498866.1:p.Ser35_Arg36insIleProSer | |
| ENST00000360215.2:c.266_274dup | ENSP00000353346.1:p.Ser91_Arg92insIleProSer | |
| NM_182548.3:c.266_274dup | NP_872354.1:p.Ser91_Arg92insIleProSer | |
| XM_011514403.1:c.266_274dup | XP_011512705.1:p.Ser91_Arg92insIleProSer | |
| NM_182548.4:c.266_274dup MANE Select | NP_872354.1:p.Ser91_Arg92insIleProSer |