Linked Data
gnomAD v4:
7-19117074-C-CCGCCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117078_19117079insCGCGCC , CM000669.2:g.19117078_19117079insCGCGCC | GRCh38 |
| NC_000007.13:g.19156701_19156702insCGCGCC , CM000669.1:g.19156701_19156702insCGCGCC | GRCh37 |
| NC_000007.12:g.19123226_19123227insCGCGCC | NCBI36 |
| NG_008114.1:g.5598_5599insCGGGCG | |
| NG_008114.2:g.5598_5599insCGGGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.247_248insCGGGCG MANE Select | ENSP00000242261.5:p.Gly82_Gly83insAlaGly | |
| ENST00000242261.5:c.247_248insCGGGCG | ENSP00000242261.5:p.Gly82_Gly83insAlaGly | |
| ENST00000354571.5:c.44_45insCGGGCG | ||
| NM_000474.3:c.247_248insCGGGCG | NP_000465.1:p.Gly82_Gly83insAlaGly | |
| XM_011515496.1:c.247_248insCGGGCG | XP_011513798.1:p.Gly82_Gly83insAlaGly | |
| NR_149001.1:n.598_599insCGGGCG | ||
| NM_000474.4:c.247_248insCGGGCG MANE Select | NP_000465.1:p.Gly82_Gly83insAlaGly | |
| NR_149001.2:n.562_563insCGGGCG |