Linked Data
dbSNP Id:
rs71022556
gnomAD v3:
10-89247379-C-CAAA
gnomAD v4:
10-89247379-C-CAAA
MyVariant Identifiers:
chr10:g.91007136_91007137insAAA (hg19)
chr10:g.89247379_89247380insAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89247409_89247411dup , CM000672.2:g.89247409_89247411dup | GRCh38 |
| NC_000010.10:g.91007166_91007168dup , CM000672.1:g.91007166_91007168dup | GRCh37 |
| NC_000010.9:g.90997146_90997148dup | NCBI36 |
| NG_008194.1:g.9522_9524dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.111+156_111+158dup MANE Select | ENSP00000337354.5:n.111+156_111+158dup | |
| ENST00000282673.5:c.111+156_111+158dup | ENSP00000282673.4:n.111+156_111+158dup | |
| ENST00000336233.9:c.111+156_111+158dup | ENSP00000337354.5:n.111+156_111+158dup | |
| ENST00000371837.5:c.62-18984_62-18982dup | ENSP00000360903.1:n.62-18984_62-18982dup | |
| ENST00000428800.5:c.111+156_111+158dup | ENSP00000388415.1:n.111+156_111+158dup | |
| ENST00000456827.5:c.-120+4355_-120+4357dup | ENSP00000413019.2:n.-120+4355_-120+4357dup | |
| NM_000235.3:c.111+156_111+158dup | NP_000226.2:n.111+156_111+158dup | |
| NM_001127605.2:c.111+156_111+158dup | NP_001121077.1:n.111+156_111+158dup | |
| NM_001288979.1:c.-120+4355_-120+4357dup | NP_001275908.1:n.-120+4355_-120+4357dup | |
| XM_024448023.1:c.111+156_111+158dup | XP_024303791.1:n.111+156_111+158dup | |
| NM_000235.4:c.111+156_111+158dup MANE Select | NP_000226.2:n.111+156_111+158dup | |
| NM_001127605.3:c.111+156_111+158dup | NP_001121077.1:n.111+156_111+158dup | |
| NM_001288979.2:c.-120+4355_-120+4357dup | NP_001275908.1:n.-120+4355_-120+4357dup |