Linked Data
dbSNP Id:
rs1857548619
gnomAD v3:
11-72722227-C-CTGTGTGTA
gnomAD v4:
11-72722227-C-CTGTGTGTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72722235_72722242dup , CM000673.2:g.72722235_72722242dup | GRCh38 |
| NC_000011.9:g.72433280_72433287dup , CM000673.1:g.72433280_72433287dup | GRCh37 |
| NC_000011.8:g.72110928_72110935dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.509+4385_509+4392dup MANE Select | ENSP00000377233.3:n.509+4385_509+4392dup | |
| ENST00000334211.12:c.-612_-605dup | ENSP00000335506.8:n.-612_-605dup | |
| ENST00000359373.9:c.509+4385_509+4392dup | ENSP00000352332.5:n.509+4385_509+4392dup | |
| ENST00000393609.7:c.509+4385_509+4392dup | ENSP00000377233.3:n.509+4385_509+4392dup | |
| NM_001040118.2:c.509+4385_509+4392dup | NP_001035207.1:n.509+4385_509+4392dup | |
| NM_001135190.1:c.-612_-605dup | NP_001128662.1:n.-612_-605dup | |
| NM_015242.4:c.-612_-605dup | NP_056057.2:n.-612_-605dup | |
| NM_001369489.1:c.-612_-605dup | NP_001356418.1:n.-612_-605dup | |
| NR_161388.1:n.106_113dup | ||
| NM_001040118.3:c.509+4385_509+4392dup MANE Select | NP_001035207.1:n.509+4385_509+4392dup | |
| NM_001135190.2:c.-612_-605dup | NP_001128662.1:n.-612_-605dup | |
| NM_015242.5:c.-612_-605dup | NP_056057.2:n.-612_-605dup |