Linked Data
dbSNP Id:
rs778047816
gnomAD v2:
9-139581606-T-TCCCGGCGGCCCCC
gnomAD v4:
9-136687154-T-TCCCGGCGGCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136687155_136687167dup , CM000671.2:g.136687155_136687167dup | GRCh38 |
| NC_000009.11:g.139581607_139581619dup , CM000671.1:g.139581607_139581619dup | GRCh37 |
| NC_000009.10:g.138701428_138701440dup | NCBI36 |
| NG_008090.1:g.5293_5305dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.182+9_182+21dup MANE Select | ENSP00000360761.2:n.182+9_182+21dup | |
| ENST00000371694.7:c.182+9_182+21dup | ENSP00000360759.3:n.182+9_182+21dup | |
| ENST00000371696.6:c.182+9_182+21dup | ENSP00000360761.2:n.182+9_182+21dup | |
| ENST00000470861.1:n.190+9_190+21dup | ||
| ENST00000538402.1:c.182+9_182+21dup | ENSP00000438919.1:n.182+9_182+21dup | |
| NM_001012727.1:c.182+9_182+21dup | NP_001012745.1:n.182+9_182+21dup | |
| NM_006412.3:c.182+9_182+21dup | NP_006403.2:n.182+9_182+21dup | |
| NM_006412.4:c.182+9_182+21dup MANE Select | NP_006403.2:n.182+9_182+21dup | |
| NM_001012727.2:c.182+9_182+21dup | NP_001012745.1:n.182+9_182+21dup |