Linked Data
dbSNP Id:
rs756689558
ExAC:
5:44305331 G / GGTACACTC
MyVariant Identifiers:
chr5:g.44305331_44305332insGTACACTC (hg19)
chr5:g.44305229_44305230insGTACACTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44305229_44305230insGTACACTC , CM000667.2:g.44305229_44305230insGTACACTC | GRCh38 |
| NC_000005.9:g.44305331_44305332insGTACACTC , CM000667.1:g.44305331_44305332insGTACACTC | GRCh37 |
| NC_000005.8:g.44341088_44341089insGTACACTC | NCBI36 |
| NG_011446.1:g.88453_88454insGAGTGTAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264664.5:c.430-38_430-37insGAGTGTAC MANE Select | ENSP00000264664.4:n.430-38_430-37insGAGTGTAC | |
| ENST00000264664.4:c.430-38_430-37insGAGTGTAC | ENSP00000264664.4:n.430-38_430-37insGAGTGTAC | |
| NM_004465.1:c.430-38_430-37insGAGTGTAC | NP_004456.1:n.430-38_430-37insGAGTGTAC | |
| XM_005248264.2:c.430-38_430-37insGAGTGTAC | XP_005248321.1:n.430-38_430-37insGAGTGTAC | |
| XM_005248264.4:c.430-38_430-37insGAGTGTAC | XP_005248321.1:n.430-38_430-37insGAGTGTAC | |
| NM_004465.2:c.430-38_430-37insGAGTGTAC MANE Select | NP_004456.1:n.430-38_430-37insGAGTGTAC |