Linked Data
dbSNP Id:
rs769832722
ExAC:
8:19811856 G / GTAAATATT
gnomAD v2:
8-19811856-G-GTAAATATT
gnomAD v4:
8-19954345-G-GTAAATATT
MyVariant Identifiers:
chr8:g.19811856_19811857insTAAATATT (hg19)
chr8:g.19954345_19954346insTAAATATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954345_19954346insTAAATATT , CM000670.2:g.19954345_19954346insTAAATATT | GRCh38 |
| NC_000008.10:g.19811856_19811857insTAAATATT , CM000670.1:g.19811856_19811857insTAAATATT | GRCh37 |
| NC_000008.9:g.19856136_19856137insTAAATATT | NCBI36 |
| NG_008855.1:g.20275_20276insTAAATATT | |
| NG_008855.2:g.57629_57630insTAAATATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.767_768insTAAATATT MANE Select | ENSP00000497642.1:p.Leu257LysfsTer10 | |
| ENST00000311322.8:c.767_768insTAAATATT | ENSP00000309757.6:p.Leu257LysfsTer10 | |
| NM_000237.2:c.767_768insTAAATATT | NP_000228.1:p.Leu257LysfsTer10 | |
| NM_000237.3:c.767_768insTAAATATT MANE Select | NP_000228.1:p.Leu257LysfsTer10 |