Linked Data
dbSNP Id:
rs1554442039
gnomAD v2:
7-19156651-CCCGCCGCCGCTGCTGCTGCCG-C
gnomAD v4:
7-19117028-CCCGCCGCCGCTGCTGCTGCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117039_19117059del , CM000669.2:g.19117039_19117059del | GRCh38 |
| NC_000007.13:g.19156662_19156682del , CM000669.1:g.19156662_19156682del | GRCh37 |
| NC_000007.12:g.19123187_19123207del | NCBI36 |
| NG_008114.1:g.5624_5644del | |
| NG_008114.2:g.5624_5644del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.273_293del MANE Select | ENSP00000242261.5:p.Gly92_Gly98del | |
| ENST00000242261.5:c.273_293del | ENSP00000242261.5:p.Gly92_Gly98del | |
| ENST00000354571.5:c.70_90del | ||
| NM_000474.3:c.273_293del | NP_000465.1:p.Gly92_Gly98del | |
| XM_011515496.1:c.273_293del | XP_011513798.1:p.Gly92_Gly98del | |
| NR_149001.1:n.624_644del | ||
| NM_000474.4:c.273_293del MANE Select | NP_000465.1:p.Gly92_Gly98del | |
| NR_149001.2:n.588_608del |