MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00083399 (SAS)
Genomes Max Group AF
0.00083431 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128937868_128937877dup , CM000669.2:g.128937868_128937877dup | GRCh38 |
| NC_000007.13:g.128577922_128577931dup , CM000669.1:g.128577922_128577931dup | GRCh37 |
| NC_000007.12:g.128365158_128365167dup | NCBI36 |
| NG_012306.1:g.4929_4938dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700148.1:n.52+34_52+43dup | ||
| ENST00000489702.6:c.-12+34_-12+43dup | ENSP00000418037.2:n.-12+34_-12+43dup | |
| ENST00000652525.1:c.-12+174_-12+183dup | ENSP00000498293.1:n.-12+174_-12+183dup | |
| ENST00000489702.5:c.-12+34_-12+43dup | ENSP00000418037.1:n.-12+34_-12+43dup | |
| XM_011516160.1:c.-12+34_-12+43dup | XP_011514462.1:n.-12+34_-12+43dup | |
| NM_001347928.1:c.-12+603_-12+612dup | NP_001334857.1:n.-12+603_-12+612dup | |
| NM_001347928.2:c.-12+603_-12+612dup | NP_001334857.1:n.-12+603_-12+612dup |