Linked Data
dbSNP Id:
rs777385433
gnomAD v2:
9-93633030-A-AT
gnomAD v3:
9-90870748-A-AT
gnomAD v4:
9-90870748-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.90870748_90870749insT , CM000671.2:g.90870748_90870749insT | GRCh38 |
| NC_000009.11:g.93633030_93633031insT , CM000671.1:g.93633030_93633031insT | GRCh37 |
| NC_000009.10:g.92672851_92672852insT | NCBI36 |
| NG_017046.1:g.74019_74020insT | |
| NG_017046.2:g.74019_74020insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375754.9:c.916-3456_916-3455insT MANE Select | ENSP00000364907.4:n.916-3456_916-3455insT | |
| ENST00000375746.1:c.916-3456_916-3455insT | ENSP00000364898.1:n.916-3456_916-3455insT | |
| ENST00000375747.5:c.847-3456_847-3455insT | ENSP00000364899.1:n.847-3456_847-3455insT | |
| ENST00000375751.8:c.847-3456_847-3455insT | ENSP00000364904.4:n.847-3456_847-3455insT | |
| ENST00000375754.8:c.916-3456_916-3455insT | ENSP00000364907.4:n.916-3456_916-3455insT | |
| NM_001135052.3:c.847-3456_847-3455insT | NP_001128524.1:n.847-3456_847-3455insT | |
| NM_001174167.2:c.916-3456_916-3455insT | NP_001167638.1:n.916-3456_916-3455insT | |
| NM_001174168.2:c.847-3456_847-3455insT | NP_001167639.1:n.847-3456_847-3455insT | |
| NM_003177.6:c.916-3456_916-3455insT | NP_003168.2:n.916-3456_916-3455insT | |
| XM_005252147.2:c.916-3456_916-3455insT | XP_005252204.1:n.916-3456_916-3455insT | |
| XM_011518946.1:c.916-3456_916-3455insT | XP_011517248.1:n.916-3456_916-3455insT | |
| XM_011518947.1:c.847-3456_847-3455insT | XP_011517249.1:n.847-3456_847-3455insT | |
| XR_929837.1:n.1119-3456_1119-3455insT | ||
| XM_005252147.4:c.916-3456_916-3455insT | XP_005252204.1:n.916-3456_916-3455insT | |
| XM_011518946.3:c.916-3456_916-3455insT | XP_011517248.1:n.916-3456_916-3455insT | |
| XR_001746370.2:n.1119-3456_1119-3455insT | ||
| NM_003177.7:c.916-3456_916-3455insT MANE Select | NP_003168.2:n.916-3456_916-3455insT | |
| NM_001135052.4:c.847-3456_847-3455insT | NP_001128524.1:n.847-3456_847-3455insT | |
| NM_001174167.3:c.916-3456_916-3455insT | NP_001167638.1:n.916-3456_916-3455insT | |
| NM_001174168.3:c.847-3456_847-3455insT | NP_001167639.1:n.847-3456_847-3455insT |