Linked Data
dbSNP Id:
rs748376235
ExAC:
13:28498637 T / TGGC
gnomAD v2:
13-28498637-T-TGGC
gnomAD v4:
13-27924500-T-TGGC
MyVariant Identifiers:
chr13:g.28498637_28498638insGGC (hg19)
chr13:g.27924500_27924501insGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924503_27924505dup , CM000675.2:g.27924503_27924505dup | GRCh38 |
| NC_000013.10:g.28498640_28498642dup , CM000675.1:g.28498640_28498642dup | GRCh37 |
| NC_000013.9:g.27396640_27396642dup | NCBI36 |
| NG_008183.1:g.9473_9475dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.654_656dup MANE Select | ENSP00000370421.4:p.Gly219_Val220insGly | |
| ENST00000381033.4:c.654_656dup | ENSP00000370421.4:p.Gly219_Val220insGly | |
| NM_000209.3:c.654_656dup | NP_000200.1:p.Gly219_Val220insGly | |
| NM_000209.4:c.654_656dup MANE Select | NP_000200.1:p.Gly219_Val220insGly |