Linked Data
gnomAD v4:
1-152311547-A-ACGTCCAGACCTTCCCCCTGAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152311549_152311569dup , CM000663.2:g.152311549_152311569dup | GRCh38 |
| NC_000001.10:g.152284025_152284045dup , CM000663.1:g.152284025_152284045dup | GRCh37 |
| NC_000001.9:g.150550649_150550669dup | NCBI36 |
| NG_016190.1:g.18636_18656dup , LRG_1028:g.18636_18656dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3318_3338dup MANE Select | ENSP00000357789.1:p.Arg1113_Ser1114insSerGlyGlyArgSerGlyArg | |
| ENST00000368799.1:c.3318_3338dup | ENSP00000357789.1:p.Arg1113_Ser1114insSerGlyGlyArgSerGlyArg | |
| NM_002016.1:c.3318_3338dup , LRG_1028t1:c.3318_3338dup | NP_002007.1:p.Arg1113_Ser1114insSerGlyGlyArgSerGlyArg | |
| XM_011509329.1:c.3318_3338dup | XP_011507631.1:p.Arg1113_Ser1114insSerGlyGlyArgSerGlyArg | |
| NM_002016.2:c.3318_3338dup MANE Select | NP_002007.1:p.Arg1113_Ser1114insSerGlyGlyArgSerGlyArg |