Linked Data
dbSNP Id:
rs387906492
gnomAD v3:
X-25013659-T-TGCCGCCGCCGCC
gnomAD v4:
X-25013659-T-TGCCGCCGCCGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013680_25013691dup , CM000685.2:g.25013680_25013691dup | GRCh38 |
| NC_000023.10:g.25031797_25031808dup , CM000685.1:g.25031797_25031808dup | GRCh37 |
| NC_000023.9:g.24941718_24941729dup | NCBI36 |
| NG_008281.1:g.7278_7289dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.324_335dup MANE Select | ENSP00000368332.4:p.Ala112_Ala113insAlaAlaAlaAla | |
| ENST00000379044.4:c.324_335dup | ENSP00000368332.4:p.Ala112_Ala113insAlaAlaAlaAla | |
| NM_139058.2:c.324_335dup | NP_620689.1:p.Ala112_Ala113insAlaAlaAlaAla | |
| NM_139058.3:c.324_335dup MANE Select | NP_620689.1:p.Ala112_Ala113insAlaAlaAlaAla |