Linked Data
dbSNP Id:
rs1195364530
gnomAD v2:
10-8100700-A-ACGTGCC
MyVariant Identifiers:
chr10:g.8100700_8100701insCGTGCC (hg19)
chr10:g.8058737_8058738insCGTGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8058740_8058745dup , CM000672.2:g.8058740_8058745dup | GRCh38 |
| NC_000010.10:g.8100703_8100708dup , CM000672.1:g.8100703_8100708dup | GRCh37 |
| NC_000010.9:g.8140709_8140714dup | NCBI36 |
| NG_015859.1:g.9037_9042dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.677_682dup | ENSP00000341619.3:p.Pro227_Glu228insValPro | |
| ENST00000379328.9:c.677_682dup MANE Select | ENSP00000368632.3:p.Pro227_Glu228insValPro | |
| ENST00000346208.3:c.677_682dup | ENSP00000341619.3:p.Pro227_Glu228insValPro | |
| ENST00000379328.7:c.677_682dup | ENSP00000368632.3:p.Pro227_Glu228insValPro | |
| ENST00000461472.1:n.342_347dup | ||
| NM_001002295.1:c.677_682dup | NP_001002295.1:p.Pro227_Glu228insValPro | |
| NM_002051.2:c.677_682dup | NP_002042.1:p.Pro227_Glu228insValPro | |
| XM_005252442.2:c.677_682dup | XP_005252499.1:p.Pro227_Glu228insValPro | |
| XM_005252443.3:c.677_682dup | XP_005252500.1:p.Pro227_Glu228insValPro | |
| XM_005252443.5:c.677_682dup | XP_005252500.1:p.Pro227_Glu228insValPro | |
| NM_001002295.2:c.677_682dup MANE Select | NP_001002295.1:p.Pro227_Glu228insValPro | |
| NM_002051.3:c.677_682dup | NP_002042.1:p.Pro227_Glu228insValPro |