Linked Data
dbSNP Id:
rs769913281
ExAC:
14:23901071 A / AAGC
MyVariant Identifiers:
chr14:g.23901071_23901072insAGC (hg19)
chr14:g.23431862_23431863insAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431862_23431863insAGC , CM000676.2:g.23431862_23431863insAGC | GRCh38 |
| NC_000014.8:g.23901071_23901072insAGC , CM000676.1:g.23901071_23901072insAGC | GRCh37 |
| NC_000014.7:g.22970911_22970912insAGC | NCBI36 |
| NG_007884.1:g.8799_8800insGCT , LRG_384:g.8799_8800insGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.537_538insGCT MANE Select | ENSP00000347507.3:p.Glu179_Ser180insAla | |
| ENST00000355349.3:c.537_538insGCT | ENSP00000347507.3:p.Glu179_Ser180insAla | |
| NM_000257.3:c.537_538insGCT | NP_000248.2:p.Glu179_Ser180insAla | |
| XR_245686.3:n.643_644insGCT | ||
| XM_017021340.1:c.537_538insGCT | XP_016876829.1:p.Glu179_Ser180insAla | |
| NM_000257.4:c.537_538insGCT MANE Select | NP_000248.2:p.Glu179_Ser180insAla |