Linked Data
dbSNP Id:
rs71876994
gnomAD v3:
18-77268542-G-GCCTCCTCCT
gnomAD v4:
18-77268542-G-GCCTCCTCCT
MyVariant Identifiers:
chr18:g.74980498_74980499insCCTCCTCCT (hg19)
chr18:g.77268542_77268543insCCTCCTCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268562_77268570dup , CM000680.2:g.77268562_77268570dup | GRCh38 |
| NC_000018.9:g.74980518_74980526dup , CM000680.1:g.74980518_74980526dup | GRCh37 |
| NC_000018.8:g.73109506_73109514dup | NCBI36 |
| NG_009223.1:g.23511_23519dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299727.5:c.733-23_733-15dup MANE Select | ENSP00000299727.3:n.733-23_733-15dup | |
| ENST00000299727.4:c.733-23_733-15dup | ENSP00000299727.3:n.733-23_733-15dup | |
| NM_001480.3:c.733-23_733-15dup | NP_001471.2:n.733-23_733-15dup | |
| NM_001480.4:c.733-23_733-15dup MANE Select | NP_001471.2:n.733-23_733-15dup |