Linked Data
gnomAD v4:
1-94047187-G-GTCACCTGCCCCTGTGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94047189_94047205dup , CM000663.2:g.94047189_94047205dup | GRCh38 |
| NC_000001.10:g.94512745_94512761dup , CM000663.1:g.94512745_94512761dup | GRCh37 |
| NC_000001.9:g.94285333_94285349dup | NCBI36 |
| NG_009073.1:g.78946_78962dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2744-111_2744-95dup MANE Select | ENSP00000359245.3:n.2744-111_2744-95dup | |
| ENST00000649773.1:c.2522-111_2522-95dup | ENSP00000496882.1:n.2522-111_2522-95dup | |
| ENST00000370225.3:c.2744-111_2744-95dup | ENSP00000359245.3:n.2744-111_2744-95dup | |
| ENST00000536513.5:c.-64-7115_-64-7099dup | ENSP00000439707.2:n.-64-7115_-64-7099dup | |
| NM_000350.2:c.2744-111_2744-95dup | NP_000341.2:n.2744-111_2744-95dup | |
| NM_000350.3:c.2744-111_2744-95dup MANE Select | NP_000341.2:n.2744-111_2744-95dup |