Linked Data
dbSNP Id:
rs1588260921
gnomAD v2:
9-139568293-G-GGTGGCAGGT
gnomAD v4:
9-136673841-G-GGTGGCAGGT
MyVariant Identifiers:
chr9:g.139568293_139568294insGTGGCAGGT (hg19)
chr9:g.136673841_136673842insGTGGCAGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673844_136673852dup , CM000671.2:g.136673844_136673852dup | GRCh38 |
| NC_000009.11:g.139568296_139568304dup , CM000671.1:g.139568296_139568304dup | GRCh37 |
| NC_000009.10:g.138688117_138688125dup | NCBI36 |
| NG_008090.1:g.18610_18618dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.739_747dup MANE Select | ENSP00000360761.2:p.His249_Arg250insThrCysHis | |
| ENST00000371694.7:c.643_651dup | ENSP00000360759.3:p.His217_Arg218insThrCysHis | |
| ENST00000371696.6:c.739_747dup | ENSP00000360761.2:p.His249_Arg250insThrCysHis | |
| ENST00000472820.1:n.667_675dup | ||
| ENST00000538402.1:c.739_747dup | ENSP00000438919.1:p.His249_Arg250insThrCysHis | |
| NM_001012727.1:c.643_651dup | NP_001012745.1:p.His217_Arg218insThrCysHis | |
| NM_006412.3:c.739_747dup | NP_006403.2:p.His249_Arg250insThrCysHis | |
| NM_006412.4:c.739_747dup MANE Select | NP_006403.2:p.His249_Arg250insThrCysHis | |
| NM_001012727.2:c.643_651dup | NP_001012745.1:p.His217_Arg218insThrCysHis |