Linked Data
dbSNP Id:
rs754000278
ExAC:
6:31238928 T / TGTC
gnomAD v2:
6-31238928-T-TGTC
gnomAD v4:
6-31271151-T-TGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271151_31271152insGTC , CM000668.2:g.31271151_31271152insGTC | GRCh38 |
| NC_000006.11:g.31238928_31238929insGTC , CM000668.1:g.31238928_31238929insGTC | GRCh37 |
| NC_000006.10:g.31346907_31346908insGTC | NCBI36 |
| NG_029422.2:g.5980_5981insGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.540_541insGAC MANE Select | ENSP00000365402.5:p.Leu180_Arg181insAsp | |
| ENST00000376228.9:c.540_541insGAC | ENSP00000365402.5:p.Leu180_Arg181insAsp | |
| ENST00000376237.8:c.*127_*128insGAC | ENSP00000365412.4:n.*127_*128insGAC | |
| ENST00000383329.7:c.540_541insGAC | ENSP00000372819.3:p.Leu180_Arg181insAsp | |
| ENST00000415537.1:c.538_539insGAC | ||
| ENST00000484378.1:n.809_810insGAC | ||
| ENST00000487245.5:n.899_900insGAC | ||
| ENST00000495835.1:n.729_730insGAC | ||
| NM_002117.5:c.540_541insGAC | NP_002108.4:p.Leu180_Arg181insAsp | |
| NM_002117.6:c.540_541insGAC MANE Select | NP_002108.4:p.Leu180_Arg181insAsp |