Linked Data
dbSNP Id:
rs776160306
ExAC:
X:25025205 A / AGACG
gnomAD v2:
X-25025205-A-AGACG
MyVariant Identifiers:
chrX:g.25025205_25025206insGACG (hg19)
chrX:g.25007088_25007089insGACG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007091_25007092insGGAC , CM000685.2:g.25007091_25007092insGGAC | GRCh38 |
| NC_000023.10:g.25025208_25025209insGGAC , CM000685.1:g.25025208_25025209insGGAC | GRCh37 |
| NC_000023.9:g.24935129_24935130insGGAC | NCBI36 |
| NG_008281.1:g.13860_13861insCGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1448+22_1448+23insCGTC MANE Select | ENSP00000368332.4:n.1448+22_1448+23insCGTC | |
| ENST00000637993.1:c.61+22_61+23insCGTC | ||
| ENST00000379044.4:c.1448+22_1448+23insCGTC | ENSP00000368332.4:n.1448+22_1448+23insCGTC | |
| NM_139058.2:c.1448+22_1448+23insCGTC | NP_620689.1:n.1448+22_1448+23insCGTC | |
| NM_139058.3:c.1448+22_1448+23insCGTC MANE Select | NP_620689.1:n.1448+22_1448+23insCGTC |