Linked Data
dbSNP Id:
rs2113746670
gnomAD v2:
6-31324270-G-GCCCCC
gnomAD v4:
6-31356493-G-GCCCCC
MyVariant Identifiers:
chr6:g.31324270_31324271insCCCCC (hg19)
chr6:g.31356493_31356494insCCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356493_31356494insCCCCC , CM000668.2:g.31356493_31356494insCCCCC | GRCh38 |
| NC_000006.11:g.31324270_31324271insCCCCC , CM000668.1:g.31324270_31324271insCCCCC | GRCh37 |
| NC_000006.10:g.31432249_31432250insCCCCC | NCBI36 |
| NG_023187.1:g.5719_5720insGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1817-52_1817-51insGGGGG | ||
| ENST00000481849.6:n.1817-52_1817-51insGGGGG | ||
| ENST00000497377.6:n.1817-52_1817-51insGGGGG | ||
| ENST00000640094.2:c.344-52_344-51insGGGGG | ENSP00000491275.2:n.344-52_344-51insGGGGG | |
| ENST00000696558.1:c.344-52_344-51insGGGGG | ENSP00000512716.1:n.344-52_344-51insGGGGG | |
| ENST00000696559.1:c.344-52_344-51insGGGGG | ENSP00000512717.1:n.344-52_344-51insGGGGG | |
| ENST00000696560.1:c.344-52_344-51insGGGGG | ENSP00000512718.1:n.344-52_344-51insGGGGG | |
| ENST00000696561.1:c.344-52_344-51insGGGGG | ENSP00000512719.1:n.344-52_344-51insGGGGG | |
| ENST00000696562.1:c.344-52_344-51insGGGGG | ENSP00000512720.1:n.344-52_344-51insGGGGG | |
| ENST00000412585.7:c.344-52_344-51insGGGGG MANE Select | ENSP00000399168.2:n.344-52_344-51insGGGGG | |
| ENST00000412585.6:c.344-52_344-51insGGGGG | ENSP00000399168.2:n.344-52_344-51insGGGGG | |
| ENST00000434333.1:c.377-52_377-51insGGGGG | ENSP00000405931.1:n.377-52_377-51insGGGGG | |
| ENST00000474381.1:n.219-52_219-51insGGGGG | ||
| ENST00000498007.1:n.558_559insGGGGG | ||
| NM_005514.6:c.344-52_344-51insGGGGG | NP_005505.2:n.344-52_344-51insGGGGG | |
| XM_011514556.1:c.377-52_377-51insGGGGG | XP_011512858.1:n.377-52_377-51insGGGGG | |
| XM_011514557.1:c.344-52_344-51insGGGGG | XP_011512859.1:n.344-52_344-51insGGGGG | |
| XR_926175.1:n.354-52_354-51insGGGGG | ||
| NM_005514.7:c.344-52_344-51insGGGGG | NP_005505.2:n.344-52_344-51insGGGGG | |
| NM_005514.8:c.344-52_344-51insGGGGG MANE Select | NP_005505.2:n.344-52_344-51insGGGGG |