Linked Data
dbSNP Id:
rs1229477698
MyVariant Identifiers:
chr22:g.29999587_29999588insGCGCGCGCGT (hg19)
chr22:g.29603598_29603599insGCGCGCGCGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29603599_29603608dup , CM000684.2:g.29603599_29603608dup | GRCh38 |
| NC_000022.10:g.29999588_29999597dup , CM000684.1:g.29999588_29999597dup | GRCh37 |
| NC_000022.9:g.28329588_28329597dup | NCBI36 |
| NG_009057.1:g.5044_5053dup , LRG_511:g.5044_5053dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672805.1:c.-400_-391dup | ENSP00000500295.1:n.-400_-391dup | |
| ENST00000338641.8:c.-400_-391dup | ENSP00000344666.4:n.-400_-391dup | |
| ENST00000403435.5:c.-400_-391dup | ENSP00000384029.1:n.-400_-391dup | |
| ENST00000413209.6:c.-400_-391dup | ENSP00000409921.2:n.-400_-391dup | |
| NM_000268.3:c.-400_-391dup , LRG_511t1:c.-400_-391dup | NP_000259.1:n.-400_-391dup | |
| NM_016418.5:c.-400_-391dup , LRG_511t2:c.-400_-391dup | NP_057502.2:n.-400_-391dup | |
| NM_181825.2:c.-400_-391dup | NP_861546.1:n.-400_-391dup | |
| NM_181828.2:c.-400_-391dup | NP_861966.1:n.-400_-391dup | |
| NM_181829.2:c.-400_-391dup | NP_861967.1:n.-400_-391dup | |
| NM_181830.2:c.-400_-391dup | NP_861968.1:n.-400_-391dup | |
| NM_181831.2:c.-400_-391dup | NP_861969.1:n.-400_-391dup | |
| NM_181832.2:c.-400_-391dup | NP_861970.1:n.-400_-391dup | |
| NM_181833.2:c.-400_-391dup | NP_861971.1:n.-400_-391dup | |
| NR_156186.1:n.44_53dup |