Linked Data
gnomAD v3:
11-113475455-G-GGTCCCCGCCCCTGAGACA
gnomAD v4:
11-113475455-G-GGTCCCCGCCCCTGAGACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475457_113475474dup , CM000673.2:g.113475457_113475474dup | GRCh38 |
| NC_000011.9:g.113346179_113346196dup , CM000673.1:g.113346179_113346196dup | GRCh37 |
| NC_000011.8:g.112851389_112851406dup | NCBI36 |
| NG_008841.1:g.4807_4824dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540600.5:n.34+185_34+202dup |