Linked Data
dbSNP Id:
rs974339634
MyVariant Identifiers:
chr21:g.33039705_33039706insATT (hg19)
chr21:g.31667392_31667393insATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667392_31667393insATT , CM000683.2:g.31667392_31667393insATT | GRCh38 |
| NC_000021.8:g.33039705_33039706insATT , CM000683.1:g.33039705_33039706insATT | GRCh37 |
| NC_000021.7:g.31961576_31961577insATT | NCBI36 |
| NG_008689.1:g.12771_12772insATT , LRG_652:g.12771_12772insATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.357+17_357+18insATT MANE Select | ENSP00000270142.7:n.357+17_357+18insATT | |
| ENST00000270142.10:c.357+17_357+18insATT | ENSP00000270142.6:n.357+17_357+18insATT | |
| ENST00000389995.4:c.300+17_300+18insATT | ENSP00000374645.4:n.300+17_300+18insATT | |
| ENST00000470944.1:n.1285+17_1285+18insATT | ||
| NM_000454.4:c.357+17_357+18insATT , LRG_652t1:c.357+17_357+18insATT | NP_000445.1:n.357+17_357+18insATT | |
| NM_000454.5:c.357+17_357+18insATT MANE Select | NP_000445.1:n.357+17_357+18insATT |