Linked Data
dbSNP Id:
rs746876692
ExAC:
3:46901084 A / AGGAGT
MyVariant Identifiers:
chr3:g.46901084_46901085insGGAGT (hg19)
chr3:g.46859594_46859595insGGAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46859594_46859595insGGAGT , CM000665.2:g.46859594_46859595insGGAGT | GRCh38 |
| NC_000003.11:g.46901084_46901085insGGAGT , CM000665.1:g.46901084_46901085insGGAGT | GRCh37 |
| NC_000003.10:g.46876088_46876089insGGAGT | NCBI36 |
| NG_007555.2:g.27575_27576insACTCC , LRG_395:g.27575_27576insACTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.361_362insACTCC | ENSP00000393455.2:p.Ile121AsnfsTer? | |
| ENST00000292327.6:c.361_362insACTCC MANE Select | ENSP00000292327.4:p.Ile121AsnfsTer? | |
| ENST00000653454.1:c.361_362insACTCC | ENSP00000499624.1:p.Ile121AsnfsTer? | |
| ENST00000654597.1:c.361_362insACTCC | ENSP00000499406.1:p.Ile121AsnfsTer? | |
| ENST00000655244.1:n.583_584insACTCC | ||
| ENST00000662933.1:c.361_362insACTCC | ENSP00000499577.1:p.Ile121AsnfsTer? | |
| ENST00000664891.1:n.319_320insACTCC | ||
| ENST00000292327.4:c.361_362insACTCC | ENSP00000292327.4:p.Ile121AsnfsTer? | |
| ENST00000395869.5:c.361_362insACTCC | ENSP00000379210.1:p.Ile121AsnfsTer? | |
| NM_000258.2:c.361_362insACTCC , LRG_395t1:c.361_362insACTCC | NP_000249.1:p.Ile121AsnfsTer? | |
| NM_000258.3:c.361_362insACTCC MANE Select | NP_000249.1:p.Ile121AsnfsTer? |