Linked Data
dbSNP Id:
rs148706212
gnomAD v2:
6-31237814-A-AGGACAGCCAGGACAGCTG
gnomAD v3:
6-31270037-A-AGGACAGCCAGGACAGCTG
gnomAD v4:
6-31270037-A-AGGACAGCCAGGACAGCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270039_31270040insACAGCCAGGACAGCTGGG , CM000668.2:g.31270039_31270040insACAGCCAGGACAGCTGGG | GRCh38 |
| NC_000006.11:g.31237816_31237817insACAGCCAGGACAGCTGGG , CM000668.1:g.31237816_31237817insACAGCCAGGACAGCTGGG | GRCh37 |
| NC_000006.10:g.31345795_31345796insACAGCCAGGACAGCTGGG | NCBI36 |
| NG_029422.2:g.7094_7095insCAGCTGTCCTGGCTGTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.943_944insCAGCTGTCCTGGCTGTCC MANE Select | ENSP00000365402.5:p.Gly314_Leu315insProAlaValLeuAlaVal | |
| ENST00000376228.9:c.943_944insCAGCTGTCCTGGCTGTCC | ENSP00000365402.5:p.Gly314_Leu315insProAlaValLeuAlaVal | |
| ENST00000376237.8:c.*530_*531insCAGCTGTCCTGGCTGTCC | ENSP00000365412.4:n.*530_*531insCAGCTGTCCTGGCTGTCC | |
| ENST00000383329.7:c.943_944insCAGCTGTCCTGGCTGTCC | ENSP00000372819.3:p.Gly314_Leu315insProAlaValLeuAlaVal | |
| ENST00000470363.5:n.261_262insCAGCTGTCCTGGCTGTCC | ||
| ENST00000487245.5:n.1302_1303insCAGCTGTCCTGGCTGTCC | ||
| NM_002117.5:c.943_944insCAGCTGTCCTGGCTGTCC | NP_002108.4:p.Gly314_Leu315insProAlaValLeuAlaVal | |
| NM_002117.6:c.943_944insCAGCTGTCCTGGCTGTCC MANE Select | NP_002108.4:p.Gly314_Leu315insProAlaValLeuAlaVal |