Linked Data
dbSNP Id:
rs757326094
gnomAD v2:
5-178421863-C-CGCGCCAGGCCCGCCT
gnomAD v4:
5-178994862-C-CGCGCCAGGCCCGCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994870_178994884dup , CM000667.2:g.178994870_178994884dup | GRCh38 |
| NC_000005.9:g.178421871_178421885dup , CM000667.1:g.178421871_178421885dup | GRCh37 |
| NC_000005.8:g.178354477_178354491dup | NCBI36 |
| NG_008105.1:g.5247_5261dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.68_82dup MANE Select | ENSP00000430767.1:p.Ala27_Arg28insGlnAlaGlyLeuAla | |
| ENST00000650031.1:c.68_82dup | ENSP00000497110.1:p.Ala27_Arg28insGlnAlaGlyLeuAla | |
| ENST00000231188.9:c.68_82dup | ENSP00000231188.5:p.Ala27_Arg28insGlnAlaGlyLeuAla | |
| ENST00000517717.1:c.68_82dup | ENSP00000430767.1:p.Ala27_Arg28insGlnAlaGlyLeuAla | |
| NM_000843.3:c.68_82dup | NP_000834.2:p.Ala27_Arg28insGlnAlaGlyLeuAla | |
| NM_000843.4:c.68_82dup MANE Select | NP_000834.2:p.Ala27_Arg28insGlnAlaGlyLeuAla |