Linked Data
dbSNP Id:
rs771684587
ExAC:
11:18428950 G / GA
gnomAD v2:
11-18428950-G-GA
gnomAD v3:
11-18407403-G-GA
gnomAD v4:
11-18407403-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18407408dup , CM000673.2:g.18407408dup | GRCh38 |
| NC_000011.9:g.18428955dup , CM000673.1:g.18428955dup | GRCh37 |
| NC_000011.8:g.18385531dup | NCBI36 |
| NG_008185.1:g.17974dup | |
| NG_011816.1:g.103dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.*127dup MANE Select | ENSP00000395337.3:n.*127dup | |
| ENST00000227157.8:c.*276dup | ENSP00000227157.4:n.*276dup | |
| ENST00000375710.7:n.1993dup | ||
| ENST00000379412.9:c.*127dup | ENSP00000368722.5:n.*127dup | |
| ENST00000396222.6:c.*32dup | ENSP00000379524.2:n.*32dup | |
| ENST00000422447.7:c.*127dup | ENSP00000395337.3:n.*127dup | |
| ENST00000430553.6:c.*127dup | ENSP00000406172.2:n.*127dup | |
| ENST00000538451.1:n.1013dup | ||
| ENST00000540430.5:c.*127dup | ENSP00000445175.1:n.*127dup | |
| ENST00000545215.5:c.*870dup | ENSP00000442637.1:n.*870dup | |
| NM_001135239.1:c.*127dup | NP_001128711.1:n.*127dup | |
| NM_001165414.1:c.*127dup | NP_001158886.1:n.*127dup | |
| NM_001165415.1:c.*32dup | NP_001158887.1:n.*32dup | |
| NM_001165416.1:c.*276dup | NP_001158888.1:n.*276dup | |
| NM_005566.3:c.*127dup | NP_005557.1:n.*127dup | |
| NR_028500.1:n.1280dup | ||
| NM_005566.4:c.*127dup MANE Select | NP_005557.1:n.*127dup | |
| NM_001165415.2:c.*32dup | NP_001158887.1:n.*32dup | |
| NM_001135239.2:c.*127dup | NP_001128711.1:n.*127dup | |
| NM_001165414.2:c.*127dup | NP_001158886.1:n.*127dup | |
| NM_001165416.2:c.*276dup | NP_001158888.1:n.*276dup | |
| NR_028500.2:n.1106dup |