Linked Data
ClinVar Variation Id:
93682
dbSNP Id:
rs398123604
MyVariant Identifiers:
chr7:g.21582963_21582964delinsTT (hg19)
chr7:g.21543345_21543346delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21543345_21543346delinsTT , CM000669.2:g.21543345_21543346delinsTT | GRCh38 |
| NC_000007.13:g.21582963_21582964delinsTT , CM000669.1:g.21582963_21582964delinsTT | GRCh37 |
| NC_000007.12:g.21549488_21549489delinsTT | NCBI36 |
| NG_012886.2:g.5131_5132delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409508.8:c.100_101delinsTT MANE Select | ENSP00000475939.1:p.Glu34Leu | |
| ENST00000328843.10:c.100_101delinsTT | ENSP00000330671.7:p.Glu34Leu | |
| ENST00000409508.7:c.100_101delinsTT | ENSP00000475939.1:p.Glu34Leu | |
| ENST00000620169.4:c.100_101delinsTT | ENSP00000481693.1:p.Glu34Leu | |
| NM_001277115.1:c.100_101delinsTT | NP_001264044.1:p.Glu34Leu | |
| NM_001277115.2:c.100_101delinsTT MANE Select | NP_001264044.1:p.Glu34Leu |