Linked Data
dbSNP Id:
rs555093357
gnomAD v2:
15-38591899-A-AT
gnomAD v3:
15-38299698-A-AT
gnomAD v4:
15-38299698-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299707dup , CM000677.2:g.38299707dup | GRCh38 |
| NC_000015.9:g.38591908dup , CM000677.1:g.38591908dup | GRCh37 |
| NC_000015.8:g.36379200dup | NCBI36 |
| NG_008980.1:g.51857dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.207+160dup MANE Select | ENSP00000299084.4:n.207+160dup | |
| ENST00000299084.8:c.207+160dup | ENSP00000299084.4:n.207+160dup | |
| ENST00000561205.1:n.545+160dup | ||
| ENST00000561317.1:c.144+160dup | ENSP00000453680.1:n.144+160dup | |
| NM_152594.2:c.207+160dup | NP_689807.1:n.207+160dup | |
| XM_005254202.2:c.243+160dup | XP_005254259.1:n.243+160dup | |
| XM_005254203.3:c.-15-22534dup | XP_005254260.1:n.-15-22534dup | |
| XM_011521288.1:c.144+160dup | XP_011519590.1:n.144+160dup | |
| XM_011521289.1:c.144+160dup | XP_011519591.1:n.144+160dup | |
| XM_011521290.1:c.144+160dup | XP_011519592.1:n.144+160dup | |
| XM_005254202.3:c.243+160dup | XP_005254259.1:n.243+160dup | |
| XM_011521289.3:c.144+160dup | XP_011519591.1:n.144+160dup | |
| NM_152594.3:c.207+160dup MANE Select | NP_689807.1:n.207+160dup |