Linked Data
dbSNP Id:
rs1563160166
gnomAD v2:
7-19156662-TGCTGCTGCCGCCGCCGCCGCCCGCGCC-T
gnomAD v4:
7-19117039-TGCTGCTGCCGCCGCCGCCGCCCGCGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117042_19117068del , CM000669.2:g.19117042_19117068del | GRCh38 |
| NC_000007.13:g.19156665_19156691del , CM000669.1:g.19156665_19156691del | GRCh37 |
| NC_000007.12:g.19123190_19123216del | NCBI36 |
| NG_008114.1:g.5607_5633del | |
| NG_008114.2:g.5607_5633del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.256_282del MANE Select | ENSP00000242261.5:p.Gly86_Ser94del | |
| ENST00000242261.5:c.256_282del | ENSP00000242261.5:p.Gly86_Ser94del | |
| ENST00000354571.5:c.53_79del | ||
| NM_000474.3:c.256_282del | NP_000465.1:p.Gly86_Ser94del | |
| XM_011515496.1:c.256_282del | XP_011513798.1:p.Gly86_Ser94del | |
| NR_149001.1:n.607_633del | ||
| NM_000474.4:c.256_282del MANE Select | NP_000465.1:p.Gly86_Ser94del | |
| NR_149001.2:n.571_597del |