Linked Data
gnomAD v4:
7-100647100-G-GCAGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100647102_100647106dup , CM000669.2:g.100647102_100647106dup | GRCh38 |
| NC_000007.13:g.100244725_100244729dup , CM000669.1:g.100244725_100244729dup | GRCh37 |
| NC_000007.12:g.100082661_100082665dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.822-20_822-16dup MANE Select | ENSP00000160382.5:n.822-20_822-16dup | |
| ENST00000160382.9:c.822-20_822-16dup | ENSP00000160382.5:n.822-20_822-16dup | |
| ENST00000487125.1:n.364_368dup | ||
| NM_016188.4:c.822-20_822-16dup | NP_057272.1:n.822-20_822-16dup | |
| XR_927476.1:n.929-20_929-16dup | ||
| NR_134539.1:n.929-20_929-16dup | ||
| NM_016188.5:c.822-20_822-16dup MANE Select | NP_057272.1:n.822-20_822-16dup | |
| NR_134539.2:n.916-20_916-16dup |