Linked Data
ClinVar Variation Id:
2983467
ClinVar RCV Id:
RCV003848082
dbSNP Id:
rs955237055
gnomAD v2:
7-27239298-C-CGCGGCGGCG
gnomAD v3:
7-27199679-C-CGCGGCGGCG
gnomAD v4:
7-27199679-C-CGCGGCGGCG
MyVariant Identifiers:
chr7:g.27239307_27239308insGCGGCGGCG (hg19)
chr7:g.27199688_27199689insGCGGCGGCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27199691_27199699dup , CM000669.2:g.27199691_27199699dup | GRCh38 |
| NC_000007.13:g.27239310_27239318dup , CM000669.1:g.27239310_27239318dup | GRCh37 |
| NC_000007.12:g.27205835_27205843dup | NCBI36 |
| NG_008181.1:g.5419_5427dup | |
| NG_008181.2:g.5419_5427dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649031.1:c.390_398dup MANE Select | ENSP00000497112.1:p.Ala133_Ser134insAlaAlaAla | |
| ENST00000222753.5:c.390_398dup | ENSP00000222753.4:p.Ala133_Ser134insAlaAlaAla | |
| NM_000522.4:c.390_398dup | NP_000513.2:p.Ala133_Ser134insAlaAlaAla | |
| XM_011515344.1:c.390_398dup | XP_011513646.1:p.Ala133_Ser134insAlaAlaAla | |
| NM_000522.5:c.390_398dup MANE Select | NP_000513.2:p.Ala133_Ser134insAlaAlaAla |