Linked Data
dbSNP Id:
rs755464331
ExAC:
9:139568157 T / TCG
gnomAD v2:
9-139568157-T-TCG
gnomAD v4:
9-136673705-T-TCG
MyVariant Identifiers:
chr9:g.139568157_139568158insCG (hg19)
chr9:g.136673705_136673706insCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673706_136673707dup , CM000671.2:g.136673706_136673707dup | GRCh38 |
| NC_000009.11:g.139568158_139568159dup , CM000671.1:g.139568158_139568159dup | GRCh37 |
| NC_000009.10:g.138687979_138687980dup | NCBI36 |
| NG_008090.1:g.18753_18754dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.*45_*46dup MANE Select | ENSP00000360761.2:n.*45_*46dup | |
| ENST00000371694.7:c.*45_*46dup | ENSP00000360759.3:n.*45_*46dup | |
| ENST00000371696.6:c.*45_*46dup | ENSP00000360761.2:n.*45_*46dup | |
| ENST00000538402.1:c.*45_*46dup | ENSP00000438919.1:n.*45_*46dup | |
| NM_001012727.1:c.*45_*46dup | NP_001012745.1:n.*45_*46dup | |
| NM_006412.3:c.*45_*46dup | NP_006403.2:n.*45_*46dup | |
| NM_006412.4:c.*45_*46dup MANE Select | NP_006403.2:n.*45_*46dup | |
| NM_001012727.2:c.*45_*46dup | NP_001012745.1:n.*45_*46dup |