Linked Data
dbSNP Id:
rs1036902808
gnomAD v2:
6-35607424-T-TA
gnomAD v3:
6-35639647-T-TA
gnomAD v4:
6-35639647-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35639654dup , CM000668.2:g.35639654dup | GRCh38 |
| NC_000006.11:g.35607431dup , CM000668.1:g.35607431dup | GRCh37 |
| NC_000006.10:g.35715409dup | NCBI36 |
| NG_012645.2:g.93936dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357266.9:c.106-2490dup MANE Select | ENSP00000349811.3:n.106-2490dup | |
| ENST00000357266.8:c.106-2490dup | ENSP00000349811.3:n.106-2490dup | |
| ENST00000536438.5:c.106-2490dup | ENSP00000444810.1:n.106-2490dup | |
| ENST00000539068.5:c.106-2490dup | ENSP00000441205.1:n.106-2490dup | |
| ENST00000542713.1:c.106-2490dup | ENSP00000442340.1:n.106-2490dup | |
| NM_001145775.2:c.106-2490dup | NP_001139247.1:n.106-2490dup | |
| NM_001145776.1:c.106-2490dup | NP_001139248.1:n.106-2490dup | |
| NM_001145777.1:c.106-2490dup | NP_001139249.1:n.106-2490dup | |
| NM_004117.3:c.106-2490dup | NP_004108.1:n.106-2490dup | |
| XR_926743.1:n.287+5834dup | ||
| XR_002956345.1:n.1483-9696dup | ||
| NM_001145775.3:c.106-2490dup | NP_001139247.1:n.106-2490dup | |
| NM_001145776.2:c.106-2490dup | NP_001139248.1:n.106-2490dup | |
| NM_001145777.2:c.106-2490dup | NP_001139249.1:n.106-2490dup | |
| NM_004117.4:c.106-2490dup MANE Select | NP_004108.1:n.106-2490dup |