Linked Data
gnomAD v4:
X-25013653-G-GGCCGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013659_25013664dup , CM000685.2:g.25013659_25013664dup | GRCh38 |
| NC_000023.10:g.25031776_25031781dup , CM000685.1:g.25031776_25031781dup | GRCh37 |
| NC_000023.9:g.24941697_24941702dup | NCBI36 |
| NG_008281.1:g.7290_7295dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.336_341dup MANE Select | ENSP00000368332.4:p.Ala114_Ala115insAlaAla | |
| ENST00000379044.4:c.336_341dup | ENSP00000368332.4:p.Ala114_Ala115insAlaAla | |
| NM_139058.2:c.336_341dup | NP_620689.1:p.Ala114_Ala115insAlaAla | |
| NM_139058.3:c.336_341dup MANE Select | NP_620689.1:p.Ala114_Ala115insAlaAla |