Linked Data
dbSNP Id:
rs1205002923
gnomAD v3:
12-53973759-G-GCAAGGGCGAGGC
gnomAD v4:
12-53973759-G-GCAAGGGCGAGGC
MyVariant Identifiers:
chr12:g.54367543_54367544insCAAGGGCGAGGC (hg19)
chr12:g.53973759_53973760insCAAGGGCGAGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53973766_53973777dup , CM000674.2:g.53973766_53973777dup | GRCh38 |
| NC_000012.11:g.54367550_54367561dup , CM000674.1:g.54367550_54367561dup | GRCh37 |
| NC_000012.10:g.52653817_52653828dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243082.4:c.525_536dup (HOXC11) | ENSP00000243082.4:p.Gly179_Glu180insGluAlaLysGly | |
| ENST00000546378.1:c.525_536dup (HOXC11) MANE Select | ENSP00000446680.1:p.Gly179_Glu180insGluAlaLysGly | |
| NM_014212.3:c.525_536dup (HOXC11) | NP_055027.1:p.Gly179_Glu180insGluAlaLysGly | |
| NR_047517.1:n.59+1127_59+1138dup (HOTAIR) | ||
| NM_014212.4:c.525_536dup (HOXC11) MANE Select | NP_055027.1:p.Gly179_Glu180insGluAlaLysGly |