Linked Data
dbSNP Id:
rs746999348
ExAC:
1:215901602 T / TCTG
gnomAD v2:
1-215901602-T-TCTG
gnomAD v4:
1-215728260-T-TCTG
MyVariant Identifiers:
chr1:g.215901602_215901603insCTG (hg19)
chr1:g.215728260_215728261insCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728260_215728261insCTG , CM000663.2:g.215728260_215728261insCTG | GRCh38 |
| NC_000001.10:g.215901602_215901603insCTG , CM000663.1:g.215901602_215901603insCTG | GRCh37 |
| NC_000001.9:g.213968225_213968226insCTG | NCBI36 |
| NG_009497.1:g.700136_700137insCAG | |
| NG_009497.2:g.700188_700189insCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11835_11836insCAG MANE Select | ENSP00000305941.3:p.Cys3945_Asn3946insGln | |
| ENST00000674083.1:c.11835_11836insCAG | ENSP00000501296.1:p.Cys3945_Asn3946insGln | |
| ENST00000307340.7:c.11835_11836insCAG | ENSP00000305941.3:p.Cys3945_Asn3946insGln | |
| NM_206933.2:c.11835_11836insCAG | NP_996816.2:p.Cys3945_Asn3946insGln | |
| NM_206933.3:c.11835_11836insCAG | NP_996816.2:p.Cys3945_Asn3946insGln | |
| NM_206933.4:c.11835_11836insCAG MANE Select | NP_996816.3:p.Cys3945_Asn3946insGln |