Linked Data
ClinVar Variation Id:
476632
ClinVar RCV Id:
RCV000542446
dbSNP Id:
rs544465774
gnomAD v2:
7-19156668-T-TGCCGCCGCCGCCGCCCGCGCC
gnomAD v3:
7-19117045-T-TGCCGCCGCCGCCGCCCGCGCC
gnomAD v4:
7-19117045-T-TGCCGCCGCCGCCGCCCGCGCC
MyVariant Identifiers:
chr7:g.19156669_19156689dup (hg19)
chr7:g.19156689_19156690insGCCGCCGCCGCCGCCCGCGCC (hg19)
chr7:g.19156686_19156687insGCCGCCGCCGCCGCCGCCCGC (hg19)
chr7:g.19156668_19156669insGCCGCCGCCGCCGCCCGCGCC (hg19)
chr7:g.19117046_19117066dup (hg38)
chr7:g.19117066_19117067insGCCGCCGCCGCCGCCCGCGCC (hg38)
chr7:g.19117063_19117064insGCCGCCGCCGCCGCCGCCCGC (hg38)
chr7:g.19117045_19117046insGCCGCCGCCGCCGCCCGCGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117058_19117078dup , CM000669.2:g.19117058_19117078dup | GRCh38 |
| NC_000007.13:g.19156681_19156701dup , CM000669.1:g.19156681_19156701dup | GRCh37 |
| NC_000007.12:g.19123206_19123226dup | NCBI36 |
| NG_008114.1:g.5607_5627dup | |
| NG_008114.2:g.5607_5627dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.256_276dup MANE Select | ENSP00000242261.5:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly | |
| ENST00000242261.5:c.256_276dup | ENSP00000242261.5:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly | |
| ENST00000354571.5:c.53_73dup | ||
| NM_000474.3:c.256_276dup | NP_000465.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly | |
| XM_011515496.1:c.256_276dup | XP_011513798.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly | |
| NR_149001.1:n.607_627dup | ||
| NM_000474.4:c.256_276dup MANE Select | NP_000465.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly | |
| NR_149001.2:n.571_591dup |