Linked Data
dbSNP Id:
rs1446374840
MyVariant Identifiers:
chr6:g.31370085_31370086insGCCT (hg19)
chr6:g.31402308_31402309insGCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31402310_31402313dup , CM000668.2:g.31402310_31402313dup | GRCh38 |
| NC_000006.11:g.31370087_31370090dup , CM000668.1:g.31370087_31370090dup | GRCh37 |
| NC_000006.10:g.31478066_31478069dup | NCBI36 |
| NG_034139.1:g.7527_7530dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000667609.1:n.218_221dup | ||
| ENST00000673647.1:c.-235_-232dup | ENSP00000500967.1:n.-235_-232dup | |
| ENST00000673996.1:n.79+1527_79+1530dup | ||
| ENST00000674069.1:c.-173+1547_-173+1550dup | ENSP00000501157.1:n.-173+1547_-173+1550dup | |
| ENST00000674131.1:c.-235_-232dup | ENSP00000501002.1:n.-235_-232dup | |
| ENST00000616296.4:c.-222+1527_-222+1530dup | ENSP00000482382.1:n.-222+1527_-222+1530dup | |
| NM_001289152.1:c.-222+1527_-222+1530dup | NP_001276081.1:n.-222+1527_-222+1530dup | |
| NM_001289153.1:c.-222+1547_-222+1550dup | NP_001276082.1:n.-222+1547_-222+1550dup | |
| NM_001289154.1:c.-173+1547_-173+1550dup | NP_001276083.1:n.-173+1547_-173+1550dup | |
| NM_001289152.2:c.-222+1527_-222+1530dup | NP_001276081.1:n.-222+1527_-222+1530dup | |
| NM_001289153.2:c.-222+1547_-222+1550dup | NP_001276082.1:n.-222+1547_-222+1550dup | |
| NM_001289154.2:c.-173+1547_-173+1550dup | NP_001276083.1:n.-173+1547_-173+1550dup |