Linked Data
dbSNP Id:
rs1554211802
gnomAD v3:
6-31356487-C-CGCCCCA
gnomAD v4:
6-31356487-C-CGCCCCA
MyVariant Identifiers:
chr6:g.31324264_31324265insGCCCCA (hg19)
chr6:g.31356487_31356488insGCCCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356492_31356493insAGCCCC , CM000668.2:g.31356492_31356493insAGCCCC | GRCh38 |
| NC_000006.11:g.31324269_31324270insAGCCCC , CM000668.1:g.31324269_31324270insAGCCCC | GRCh37 |
| NC_000006.10:g.31432248_31432249insAGCCCC | NCBI36 |
| NG_023187.1:g.5725_5726insTGGGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1817-46_1817-45insTGGGGC | ||
| ENST00000481849.6:n.1817-46_1817-45insTGGGGC | ||
| ENST00000497377.6:n.1817-46_1817-45insTGGGGC | ||
| ENST00000640094.2:c.344-46_344-45insTGGGGC | ENSP00000491275.2:n.344-46_344-45insTGGGGC | |
| ENST00000696558.1:c.344-46_344-45insTGGGGC | ENSP00000512716.1:n.344-46_344-45insTGGGGC | |
| ENST00000696559.1:c.344-46_344-45insTGGGGC | ENSP00000512717.1:n.344-46_344-45insTGGGGC | |
| ENST00000696560.1:c.344-46_344-45insTGGGGC | ENSP00000512718.1:n.344-46_344-45insTGGGGC | |
| ENST00000696561.1:c.344-46_344-45insTGGGGC | ENSP00000512719.1:n.344-46_344-45insTGGGGC | |
| ENST00000696562.1:c.344-46_344-45insTGGGGC | ENSP00000512720.1:n.344-46_344-45insTGGGGC | |
| ENST00000412585.7:c.344-46_344-45insTGGGGC MANE Select | ENSP00000399168.2:n.344-46_344-45insTGGGGC | |
| ENST00000412585.6:c.344-46_344-45insTGGGGC | ENSP00000399168.2:n.344-46_344-45insTGGGGC | |
| ENST00000434333.1:c.377-46_377-45insTGGGGC | ENSP00000405931.1:n.377-46_377-45insTGGGGC | |
| ENST00000474381.1:n.219-46_219-45insTGGGGC | ||
| ENST00000498007.1:n.564_565insTGGGGC | ||
| NM_005514.6:c.344-46_344-45insTGGGGC | NP_005505.2:n.344-46_344-45insTGGGGC | |
| XM_011514556.1:c.377-46_377-45insTGGGGC | XP_011512858.1:n.377-46_377-45insTGGGGC | |
| XM_011514557.1:c.344-46_344-45insTGGGGC | XP_011512859.1:n.344-46_344-45insTGGGGC | |
| XR_926175.1:n.354-46_354-45insTGGGGC | ||
| NM_005514.7:c.344-46_344-45insTGGGGC | NP_005505.2:n.344-46_344-45insTGGGGC | |
| NM_005514.8:c.344-46_344-45insTGGGGC MANE Select | NP_005505.2:n.344-46_344-45insTGGGGC |