Linked Data
dbSNP Id:
rs546527484
gnomAD v3:
7-87516731-C-CTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
7-87516731-C-CTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87516735_87516754dup , CM000669.2:g.87516735_87516754dup | GRCh38 |
| NC_000007.13:g.87146051_87146070dup , CM000669.1:g.87146051_87146070dup | GRCh37 |
| NC_000007.12:g.86983987_86984006dup | NCBI36 |
| NG_011513.1:g.201498_201517dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2928-86_2928-67dup | ENSP00000265724.3:n.2928-86_2928-67dup | |
| ENST00000622132.5:c.2928-86_2928-67dup MANE Select | ENSP00000478255.1:n.2928-86_2928-67dup | |
| ENST00000265724.7:c.2928-86_2928-67dup | ENSP00000265724.3:n.2928-86_2928-67dup | |
| ENST00000475929.5:n.84-86_84-67dup | ||
| ENST00000483831.1:n.486-86_486-67dup | ||
| ENST00000488737.6:n.570-86_570-67dup | ||
| ENST00000496821.5:n.556-86_556-67dup | ||
| ENST00000543898.5:c.2736-86_2736-67dup | ENSP00000444095.1:n.2736-86_2736-67dup | |
| ENST00000622132.4:c.2928-86_2928-67dup | ENSP00000478255.1:n.2928-86_2928-67dup | |
| NM_000927.4:c.2928-86_2928-67dup | NP_000918.2:n.2928-86_2928-67dup | |
| NM_001348944.1:c.2928-86_2928-67dup | NP_001335873.1:n.2928-86_2928-67dup | |
| NM_001348945.1:c.3138-86_3138-67dup | NP_001335874.1:n.3138-86_3138-67dup | |
| NM_001348946.1:c.2928-86_2928-67dup | NP_001335875.1:n.2928-86_2928-67dup | |
| NM_001348946.2:c.2928-86_2928-67dup MANE Select | NP_001335875.1:n.2928-86_2928-67dup | |
| NM_000927.5:c.2928-86_2928-67dup | NP_000918.2:n.2928-86_2928-67dup | |
| NM_001348944.2:c.2928-86_2928-67dup | NP_001335873.1:n.2928-86_2928-67dup | |
| NM_001348945.2:c.3138-86_3138-67dup | NP_001335874.1:n.3138-86_3138-67dup |