Linked Data
dbSNP Id:
rs767556657
gnomAD v3:
8-63038804-T-TGCGG
gnomAD v4:
8-63038804-T-TGCGG
MyVariant Identifiers:
chr8:g.63951363_63951364insGCGG (hg19)
chr8:g.63038804_63038805insGCGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63038814_63038817dup , CM000670.2:g.63038814_63038817dup | GRCh38 |
| NC_000008.10:g.63951373_63951376dup , CM000670.1:g.63951373_63951376dup | GRCh37 |
| NC_000008.9:g.64113927_64113930dup | NCBI36 |
| NG_028126.1:g.5244_5247dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000677327.1:n.600_603dup | ||
| ENST00000677482.1:c.-40_-37dup | ENSP00000504590.1:n.-40_-37dup | |
| ENST00000679326.1:c.-40_-37dup | ENSP00000504262.1:n.-40_-37dup | |
| ENST00000260118.6:c.-40_-37dup | ENSP00000260118.6:n.-40_-37dup | |
| NM_003878.2:c.-40_-37dup | NP_003869.1:n.-40_-37dup | |
| XM_011517623.1:c.-40_-37dup | XP_011515925.1:n.-40_-37dup |