Linked Data
gnomAD v4:
16-2317677-A-AGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2317682_2317684dup , CM000678.2:g.2317682_2317684dup | GRCh38 |
| NC_000016.9:g.2367683_2367685dup , CM000678.1:g.2367683_2367685dup | GRCh37 |
| NC_000016.8:g.2307684_2307686dup | NCBI36 |
| NG_011790.1:g.28067_28069dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.958_960dup MANE Select | ENSP00000301732.5:p.Ala320_Ser321insAla | |
| ENST00000301732.9:c.958_960dup | ENSP00000301732.5:p.Ala320_Ser321insAla | |
| ENST00000382381.7:c.958_960dup | ENSP00000371818.3:p.Ala320_Ser321insAla | |
| ENST00000563623.5:n.1521_1523dup | ||
| NM_001089.2:c.958_960dup | NP_001080.2:p.Ala320_Ser321insAla | |
| NM_001089.3:c.958_960dup MANE Select | NP_001080.2:p.Ala320_Ser321insAla |