Linked Data
dbSNP Id:
rs1568361399
gnomAD v2:
19-15651456-G-GGGGGCCGAGGCCTGGCTT
gnomAD v4:
19-15540645-G-GGGGGCCGAGGCCTGGCTT
MyVariant Identifiers:
chr19:g.15651456_15651457insGGGGCCGAGGCCTGGCTT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15540646_15540663dup , CM000681.2:g.15540646_15540663dup | GRCh38 |
| NC_000019.9:g.15651457_15651474dup , CM000681.1:g.15651457_15651474dup | GRCh37 |
| NC_000019.8:g.15512457_15512474dup | NCBI36 |
| NG_007987.1:g.37122_37139dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.868_885dup MANE Select | ENSP00000269703.1:p.Leu295_Lys296insGlyAlaGluAlaTrpLeu | |
| ENST00000269703.7:c.868_885dup | ENSP00000269703.1:p.Leu295_Lys296insGlyAlaGluAlaTrpLeu | |
| ENST00000601005.2:c.868_885dup | ENSP00000469866.1:p.Leu295_Lys296insGlyAlaGluAlaTrpLeu | |
| NM_173483.3:c.868_885dup | NP_775754.2:p.Leu295_Lys296insGlyAlaGluAlaTrpLeu | |
| XM_011527692.1:c.868_885dup | XP_011525994.1:p.Leu295_Lys296insGlyAlaGluAlaTrpLeu | |
| XM_011527693.1:c.868_885dup | XP_011525995.1:p.Leu295_Lys296insGlyAlaGluAlaTrpLeu | |
| XM_011527692.2:c.868_885dup | XP_011525994.1:p.Leu295_Lys296insGlyAlaGluAlaTrpLeu | |
| XM_011527693.2:c.868_885dup | XP_011525995.1:p.Leu295_Lys296insGlyAlaGluAlaTrpLeu | |
| NM_173483.4:c.868_885dup MANE Select | NP_775754.2:p.Leu295_Lys296insGlyAlaGluAlaTrpLeu |