Linked Data
ClinVar Variation Id:
1471286
ClinVar RCV Id:
RCV001966708
dbSNP Id:
rs750238627
gnomAD v3:
7-19117045-T-TGCC
gnomAD v4:
7-19117045-T-TGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117058_19117060dup , CM000669.2:g.19117058_19117060dup | GRCh38 |
| NC_000007.13:g.19156681_19156683dup , CM000669.1:g.19156681_19156683dup | GRCh37 |
| NC_000007.12:g.19123206_19123208dup | NCBI36 |
| NG_008114.1:g.5625_5627dup | |
| NG_008114.2:g.5625_5627dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.274_276dup MANE Select | ENSP00000242261.5:p.Gly92_Ser93insGly | |
| ENST00000242261.5:c.274_276dup | ENSP00000242261.5:p.Gly92_Ser93insGly | |
| ENST00000354571.5:c.71_73dup | ||
| NM_000474.3:c.274_276dup | NP_000465.1:p.Gly92_Ser93insGly | |
| XM_011515496.1:c.274_276dup | XP_011513798.1:p.Gly92_Ser93insGly | |
| NR_149001.1:n.625_627dup | ||
| NM_000474.4:c.274_276dup MANE Select | NP_000465.1:p.Gly92_Ser93insGly | |
| NR_149001.2:n.589_591dup |