Linked Data
dbSNP Id:
rs1168480631
gnomAD v3:
1-179564909-G-GAAATATTAGAATAAGTCAA
gnomAD v4:
1-179564909-G-GAAATATTAGAATAAGTCAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179564911_179564929dup , CM000663.2:g.179564911_179564929dup | GRCh38 |
| NC_000001.10:g.179534046_179534064dup , CM000663.1:g.179534046_179534064dup | GRCh37 |
| NC_000001.9:g.177800669_177800687dup | NCBI36 |
| NG_007535.1:g.16022_16040dup , LRG_887:g.16022_16040dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.275-135_275-117dup MANE Select | ENSP00000356587.4:n.275-135_275-117dup | |
| ENST00000367615.8:c.275-135_275-117dup | ENSP00000356587.4:n.275-135_275-117dup | |
| ENST00000367616.4:c.275-135_275-117dup | ENSP00000356588.4:n.275-135_275-117dup | |
| NM_001297575.1:c.275-135_275-117dup | NP_001284504.1:n.275-135_275-117dup | |
| NM_014625.3:c.275-135_275-117dup , LRG_887t1:c.275-135_275-117dup | NP_055440.1:n.275-135_275-117dup | |
| XM_005245483.2:c.275-5167_275-5149dup | XP_005245540.1:n.275-5167_275-5149dup | |
| XM_006711529.2:c.275-135_275-117dup | XP_006711592.1:n.275-135_275-117dup | |
| XM_005245483.3:c.275-5167_275-5149dup | XP_005245540.1:n.275-5167_275-5149dup | |
| XM_017002298.1:c.275-135_275-117dup | XP_016857787.1:n.275-135_275-117dup | |
| XM_017002299.1:c.275-135_275-117dup | XP_016857788.1:n.275-135_275-117dup | |
| NM_001297575.2:c.275-135_275-117dup | NP_001284504.1:n.275-135_275-117dup | |
| NM_014625.4:c.275-135_275-117dup MANE Select | NP_055440.1:n.275-135_275-117dup |