Linked Data
dbSNP Id:
rs1316605353
gnomAD v4:
17-47284565-A-ACAC
MyVariant Identifiers:
chr17:g.45361931_45361932insCAC (hg19)
chr17:g.47284565_47284566insCAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47284566_47284567insACC , CM000679.2:g.47284566_47284567insACC | GRCh38 |
| NC_000017.10:g.45361932_45361933insACC , CM000679.1:g.45361932_45361933insACC | GRCh37 |
| NC_000017.9:g.42716931_42716932insACC | NCBI36 |
| NG_008332.2:g.35725_35726insACC , LRG_481:g.35725_35726insACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.485_486insACC | ENSP00000513002.1:p.Thr162_Lys163insPro | |
| ENST00000559488.7:c.485_486insACC MANE Select | ENSP00000452786.2:p.Thr162_Lys163insPro | |
| ENST00000559488.5:c.485_486insACC | ENSP00000452786.1:p.Thr162_Lys163insPro | |
| ENST00000560629.1:c.450_451insACC | ||
| ENST00000571680.1:c.485_486insACC | ENSP00000461626.1:p.Thr162_Lys163insPro | |
| NM_000212.2:c.485_486insACC , LRG_481t1:c.485_486insACC | NP_000203.2:p.Thr162_Lys163insPro | |
| NM_000212.3:c.485_486insACC MANE Select | NP_000203.2:p.Thr162_Lys163insPro |