Linked Data
gnomAD v4:
7-100647193-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100647196dup , CM000669.2:g.100647196dup | GRCh38 |
| NC_000007.13:g.100244819dup , CM000669.1:g.100244819dup | GRCh37 |
| NC_000007.12:g.100082755dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.821+29dup MANE Select | ENSP00000160382.5:n.821+29dup | |
| ENST00000160382.9:c.821+29dup | ENSP00000160382.5:n.821+29dup | |
| ENST00000487125.1:n.357+29dup | ||
| NM_016188.4:c.821+29dup | NP_057272.1:n.821+29dup | |
| XR_927476.1:n.928+29dup | ||
| NR_134539.1:n.928+29dup | ||
| NM_016188.5:c.821+29dup MANE Select | NP_057272.1:n.821+29dup | |
| NR_134539.2:n.915+29dup |