Linked Data
dbSNP Id:
rs1381566661
MyVariant Identifiers:
chr20:g.10639085_10639086insACACGT (hg19)
chr20:g.10658437_10658438insACACGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658438_10658443dup , CM000682.2:g.10658438_10658443dup | GRCh38 |
| NC_000020.10:g.10639086_10639091dup , CM000682.1:g.10639086_10639091dup | GRCh37 |
| NC_000020.9:g.10587086_10587091dup | NCBI36 |
| NG_007496.1:g.20604_20609dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.694+25_694+30dup MANE Select | ENSP00000254958.4:n.694+25_694+30dup | |
| ENST00000254958.9:c.694+25_694+30dup | ENSP00000254958.4:n.694+25_694+30dup | |
| ENST00000423891.6:n.560+25_560+30dup | ||
| NM_000214.2:c.694+25_694+30dup | NP_000205.1:n.694+25_694+30dup | |
| NM_000214.3:c.694+25_694+30dup MANE Select | NP_000205.1:n.694+25_694+30dup |