Linked Data
dbSNP Id:
rs1566753348
gnomAD v2:
14-101349014-C-CCG
gnomAD v4:
14-100882677-C-CCG
MyVariant Identifiers:
chr14:g.101349014_101349015insCG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100882677_100882678insCG , CM000676.2:g.100882677_100882678insCG | GRCh38 |
| NC_000014.8:g.101349014_101349015insCG , CM000676.1:g.101349014_101349015insCG | GRCh37 |
| NC_000014.7:g.100418767_100418768insCG | NCBI36 |
| NG_045001.1:g.7170_7171insCG | |
| NG_045000.5:g.51409_51410insCG | |
| NG_045000.6:g.51409_51410insCG | |
| NG_045001.2:g.26045_26046insCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.2111_2112insCG MANE Select | ENSP00000497482.1:p.Leu705GlyfsTer12 | |
| ENST00000534062.1:c.2111_2112insCG | ENSP00000435342.1:p.Leu705GlyfsTer12 | |
| NM_001134888.2:c.2111_2112insCG | NP_001128360.1:p.Leu705GlyfsTer12 | |
| NM_001134888.3:c.2111_2112insCG MANE Select | NP_001128360.1:p.Leu705GlyfsTer12 |