Linked Data
dbSNP Id:
rs34621933
gnomAD v3:
1-161307014-C-CAAAAAAA
gnomAD v4:
1-161307014-C-CAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161307032_161307038dup , CM000663.2:g.161307032_161307038dup | GRCh38 |
| NC_000001.10:g.161276822_161276828dup , CM000663.1:g.161276822_161276828dup | GRCh37 |
| NC_000001.9:g.159543446_159543452dup | NCBI36 |
| NG_008055.1:g.7952_7958dup , LRG_256:g.7952_7958dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.235-100_235-94dup | ENSP00000488104.2:n.235-100_235-94dup | |
| ENST00000533357.5:c.235-100_235-94dup MANE Select | ENSP00000432943.1:n.235-100_235-94dup | |
| ENST00000672287.2:c.-354-100_-354-94dup | ENSP00000499818.2:n.-354-100_-354-94dup | |
| ENST00000672602.2:c.235-100_235-94dup | ENSP00000500814.2:n.235-100_235-94dup | |
| ENST00000674861.1:n.298-100_298-94dup | ||
| ENST00000463290.5:c.235-100_235-94dup | ENSP00000431538.1:n.235-100_235-94dup | |
| ENST00000491222.5:c.-354-100_-354-94dup | ENSP00000431441.1:n.-354-100_-354-94dup | |
| ENST00000533357.4:c.235-100_235-94dup | ENSP00000432943.1:n.235-100_235-94dup | |
| NM_000530.6:c.235-100_235-94dup , LRG_256t1:c.235-100_235-94dup | NP_000521.2:n.235-100_235-94dup | |
| NM_000530.7:c.235-100_235-94dup | NP_000521.2:n.235-100_235-94dup | |
| NM_001315491.1:c.235-100_235-94dup | NP_001302420.1:n.235-100_235-94dup | |
| XM_017001321.2:c.265-100_265-94dup | XP_016856810.1:n.265-100_265-94dup | |
| NM_000530.8:c.235-100_235-94dup MANE Select | NP_000521.2:n.235-100_235-94dup | |
| NM_001315491.2:c.235-100_235-94dup | NP_001302420.1:n.235-100_235-94dup |