Linked Data
dbSNP Id:
rs1188847886
gnomAD v2:
9-100437852-T-TTAC
gnomAD v4:
9-97675570-T-TTAC
MyVariant Identifiers:
chr9:g.100437852_100437853insTAC (hg19)
chr9:g.97675570_97675571insTAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675572_97675574dup , CM000671.2:g.97675572_97675574dup | GRCh38 |
| NC_000009.11:g.100437854_100437856dup , CM000671.1:g.100437854_100437856dup | GRCh37 |
| NC_000009.10:g.99477675_99477677dup | NCBI36 |
| NG_011642.1:g.26837_26839dup , LRG_471:g.26837_26839dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.688_690dup MANE Select | ENSP00000364270.5:p.Val230_Arg231insVal | |
| ENST00000375128.4:c.688_690dup | ENSP00000364270.4:p.Val230_Arg231insVal | |
| ENST00000462523.5:c.*124_*126dup | ENSP00000433006.1:n.*124_*126dup | |
| ENST00000485042.1:n.200_202dup | ||
| NM_000380.3:c.688_690dup , LRG_471t1:c.688_690dup | NP_000371.1:p.Val230_Arg231insVal | |
| NR_027302.1:n.1036_1038dup | ||
| XM_006717278.1:c.688_690dup | XP_006717341.1:p.Val230_Arg231insVal | |
| XM_011518988.1:c.688_690dup | XP_011517290.1:p.Val230_Arg231insVal | |
| XR_929839.1:n.1219_1221dup | ||
| NM_001354975.1:c.562_564dup | NP_001341904.1:p.Val188_Arg189insVal | |
| NR_149091.1:n.533_535dup | ||
| NR_149092.1:n.699_701dup | ||
| NR_149093.1:n.1225_1227dup | ||
| NR_149094.1:n.1119_1121dup | ||
| NM_000380.4:c.688_690dup MANE Select | NP_000371.1:p.Val230_Arg231insVal | |
| NM_001354975.2:c.562_564dup | NP_001341904.1:p.Val188_Arg189insVal | |
| NR_027302.2:n.967_969dup | ||
| NR_149091.2:n.464_466dup | ||
| NR_149092.2:n.630_632dup | ||
| NR_149093.2:n.1156_1158dup | ||
| NR_149094.2:n.1050_1052dup |