Linked Data
gnomAD v4:
4-185143304-G-GGTGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143305_185143309dup , CM000666.2:g.185143305_185143309dup | GRCh38 |
| NC_000004.11:g.186064459_186064463dup , CM000666.1:g.186064459_186064463dup | GRCh37 |
| NC_000004.10:g.186301453_186301457dup | NCBI36 |
| NG_013001.1:g.5043_5047dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.-68_-64dup MANE Select | ENSP00000281456.5:n.-68_-64dup | |
| ENST00000281456.10:c.-68_-64dup | ENSP00000281456.5:n.-68_-64dup | |
| ENST00000491736.1:c.-68_-64dup | ENSP00000476711.1:n.-68_-64dup | |
| NM_001151.3:c.-68_-64dup | NP_001142.2:n.-68_-64dup | |
| NM_001151.4:c.-68_-64dup MANE Select | NP_001142.2:n.-68_-64dup |