Linked Data
dbSNP Id:
rs1355497533
gnomAD v2:
10-8100536-A-AGGCTCGGCC
gnomAD v3:
10-8058573-A-AGGCTCGGCC
gnomAD v4:
10-8058573-A-AGGCTCGGCC
MyVariant Identifiers:
chr10:g.8100536_8100537insGGCTCGGCC (hg19)
chr10:g.8058573_8058574insGGCTCGGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8058583_8058591dup , CM000672.2:g.8058583_8058591dup | GRCh38 |
| NC_000010.10:g.8100546_8100554dup , CM000672.1:g.8100546_8100554dup | GRCh37 |
| NC_000010.9:g.8140552_8140560dup | NCBI36 |
| NG_015859.1:g.8880_8888dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.520_528dup | ENSP00000341619.3:p.Ala176_Arg177insGlySerAla | |
| ENST00000379328.9:c.520_528dup MANE Select | ENSP00000368632.3:p.Ala176_Arg177insGlySerAla | |
| ENST00000346208.3:c.520_528dup | ENSP00000341619.3:p.Ala176_Arg177insGlySerAla | |
| ENST00000379328.7:c.520_528dup | ENSP00000368632.3:p.Ala176_Arg177insGlySerAla | |
| ENST00000461472.1:n.185_193dup | ||
| NM_001002295.1:c.520_528dup | NP_001002295.1:p.Ala176_Arg177insGlySerAla | |
| NM_002051.2:c.520_528dup | NP_002042.1:p.Ala176_Arg177insGlySerAla | |
| XM_005252442.2:c.520_528dup | XP_005252499.1:p.Ala176_Arg177insGlySerAla | |
| XM_005252443.3:c.520_528dup | XP_005252500.1:p.Ala176_Arg177insGlySerAla | |
| XM_005252443.5:c.520_528dup | XP_005252500.1:p.Ala176_Arg177insGlySerAla | |
| NM_001002295.2:c.520_528dup MANE Select | NP_001002295.1:p.Ala176_Arg177insGlySerAla | |
| NM_002051.3:c.520_528dup | NP_002042.1:p.Ala176_Arg177insGlySerAla |