Linked Data
gnomAD v4:
10-114044354-G-GGGCAATGTGCTGGTGATCGTGGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044355_114044378dup , CM000672.2:g.114044355_114044378dup | GRCh38 |
| NC_000010.10:g.115804114_115804137dup , CM000672.1:g.115804114_115804137dup | GRCh37 |
| NC_000010.9:g.115794104_115794127dup | NCBI36 |
| NG_012187.1:g.5309_5332dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.223_246dup MANE Select | ENSP00000358301.2:p.Ala82_Ile83insGlyAsnValLeuValIleValAla | |
| ENST00000369295.3:c.223_246dup | ENSP00000358301.2:p.Ala82_Ile83insGlyAsnValLeuValIleValAla | |
| NM_000684.2:c.223_246dup | NP_000675.1:p.Ala82_Ile83insGlyAsnValLeuValIleValAla | |
| NM_000684.3:c.223_246dup MANE Select | NP_000675.1:p.Ala82_Ile83insGlyAsnValLeuValIleValAla |