Linked Data
dbSNP Id:
rs1798007203
gnomAD v3:
7-86815994-T-TATTCGTATA
gnomAD v4:
7-86815994-T-TATTCGTATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.86815997_86816005dup , CM000669.2:g.86815997_86816005dup | GRCh38 |
| NC_000007.13:g.86445313_86445321dup , CM000669.1:g.86445313_86445321dup | GRCh37 |
| NC_000007.12:g.86283249_86283257dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361669.7:c.1325-22842_1325-22834dup MANE Select | ENSP00000355316.2:n.1325-22842_1325-22834dup | |
| ENST00000361669.6:c.1325-22842_1325-22834dup | ENSP00000355316.2:n.1325-22842_1325-22834dup | |
| ENST00000439827.1:c.1324+28881_1324+28889dup | ENSP00000398767.1:n.1324+28881_1324+28889dup | |
| NM_000840.2:c.1325-22842_1325-22834dup | NP_000831.2:n.1325-22842_1325-22834dup | |
| XM_011516088.1:c.1324+28881_1324+28889dup | XP_011514390.1:n.1324+28881_1324+28889dup | |
| XM_011516090.1:c.1325-17025_1325-17017dup | XP_011514392.1:n.1325-17025_1325-17017dup | |
| NM_001363522.1:c.1324+28881_1324+28889dup | NP_001350451.1:n.1324+28881_1324+28889dup | |
| NM_000840.3:c.1325-22842_1325-22834dup MANE Select | NP_000831.2:n.1325-22842_1325-22834dup | |
| NM_001363522.2:c.1324+28881_1324+28889dup | NP_001350451.1:n.1324+28881_1324+28889dup |