Linked Data
dbSNP Id:
rs748566651
ExAC:
6:31238205 C / CTCAG
gnomAD v2:
6-31238205-C-CTCAG
gnomAD v4:
6-31270428-C-CTCAG
MyVariant Identifiers:
chr6:g.31238205_31238206insTCAG (hg19)
chr6:g.31270428_31270429insTCAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270429_31270432dup , CM000668.2:g.31270429_31270432dup | GRCh38 |
| NC_000006.11:g.31238206_31238209dup , CM000668.1:g.31238206_31238209dup | GRCh37 |
| NC_000006.10:g.31346185_31346188dup | NCBI36 |
| NG_029422.2:g.6700_6703dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.673_676dup MANE Select | ENSP00000365402.5:p.Arg226ThrfsTer? | |
| ENST00000376228.9:c.673_676dup | ENSP00000365402.5:p.Arg226ThrfsTer? | |
| ENST00000376237.8:c.*260_*263dup | ENSP00000365412.4:n.*260_*263dup | |
| ENST00000383329.7:c.673_676dup | ENSP00000372819.3:p.Arg226ThrfsTer? | |
| ENST00000415537.1:c.664+7_664+10dup | ||
| ENST00000487245.5:n.1032_1035dup | ||
| ENST00000495835.1:n.862_865dup | ||
| NM_002117.5:c.673_676dup | NP_002108.4:p.Arg226ThrfsTer? | |
| NM_002117.6:c.673_676dup MANE Select | NP_002108.4:p.Arg226ThrfsTer? |