Linked Data
dbSNP Id:
rs1291804699
gnomAD v2:
6-38650493-T-G
gnomAD v3:
6-38682717-T-G
gnomAD v4:
6-38682717-T-G
MyVariant Identifiers:
chr6:g.38650493_38650496delinsGTAA (hg19)
chr6:g.38682717_38682720delinsGTAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38682717T>G , CM000668.2:g.38682717T>G | GRCh38 |
| NC_000006.11:g.38650493T>G , CM000668.1:g.38650493T>G | GRCh37 |
| NC_000006.10:g.38758471T>G | NCBI36 |
| NG_012074.1:g.25460A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.376+91A>C MANE Select | ENSP00000362463.3:n.376+91A>C | |
| ENST00000373365.4:c.376+91A>C | ENSP00000362463.3:n.376+91A>C | |
| ENST00000470973.1:n.408+91A>C | ||
| NM_006708.2:c.376+91A>C | NP_006699.2:n.376+91A>C | |
| NM_006708.3:c.376+91A>C MANE Select | NP_006699.2:n.376+91A>C |