Linked Data
dbSNP Id:
rs765273525
ExAC:
5:134364438 G / GCGTGGT
gnomAD v3:
5-135028748-G-GCGTGGT
gnomAD v4:
5-135028748-G-GCGTGGT
MyVariant Identifiers:
chr5:g.134364438_134364439insCGTGGT (hg19)
chr5:g.135028748_135028749insCGTGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028748_135028749insCGTGGT , CM000667.2:g.135028748_135028749insCGTGGT | GRCh38 |
| NC_000005.9:g.134364438_134364439insCGTGGT , CM000667.1:g.134364438_134364439insCGTGGT | GRCh37 |
| NC_000005.8:g.134392337_134392338insCGTGGT | NCBI36 |
| NG_012114.1:g.10526_10527insACCACG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*30_*31insACCACG MANE Select | ENSP00000265340.6:n.*30_*31insACCACG | |
| ENST00000265340.11:c.*30_*31insACCACG | ENSP00000265340.6:n.*30_*31insACCACG | |
| ENST00000506438.5:c.*30_*31insACCACG | ENSP00000427542.1:n.*30_*31insACCACG | |
| NM_002653.4:c.*30_*31insACCACG | NP_002644.4:n.*30_*31insACCACG | |
| NM_002653.5:c.*30_*31insACCACG MANE Select | NP_002644.4:n.*30_*31insACCACG |