Linked Data
dbSNP Id:
rs1566025601
gnomAD v2:
13-28498616-C-CGGCGGGACAGCTGTCGGGGGT
gnomAD v4:
13-27924479-C-CGGCGGGACAGCTGTCGGGGGT
MyVariant Identifiers:
chr13:g.28498616_28498617insGGCGGGACAGCTGTCGGGGGT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924486_27924506dup , CM000675.2:g.27924486_27924506dup | GRCh38 |
| NC_000013.10:g.28498623_28498643dup , CM000675.1:g.28498623_28498643dup | GRCh37 |
| NC_000013.9:g.27396623_27396643dup | NCBI36 |
| NG_008183.1:g.9456_9476dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.637_657dup MANE Select | ENSP00000370421.4:p.Gly219_Val220insThrAlaValGlyGlyGlyGly | |
| ENST00000381033.4:c.637_657dup | ENSP00000370421.4:p.Gly219_Val220insThrAlaValGlyGlyGlyGly | |
| NM_000209.3:c.637_657dup | NP_000200.1:p.Gly219_Val220insThrAlaValGlyGlyGlyGly | |
| NM_000209.4:c.637_657dup MANE Select | NP_000200.1:p.Gly219_Val220insThrAlaValGlyGlyGlyGly |