Linked Data
dbSNP Id:
rs1172774446
gnomAD v2:
6-149608933-A-ATT
gnomAD v3:
6-149287797-A-ATT
gnomAD v4:
6-149287797-A-ATT
MyVariant Identifiers:
chr6:g.149608933_149608934insTT (hg19)
chr6:g.149287797_149287798insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149287799_149287800dup , CM000668.2:g.149287799_149287800dup | GRCh38 |
| NC_000006.11:g.149608935_149608936dup , CM000668.1:g.149608935_149608936dup | GRCh37 |
| NC_000006.10:g.149650628_149650629dup | NCBI36 |
| NG_021386.2:g.74876_74877dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606202.1:c.-121+69023_-121+69024dup | ENSP00000476139.1:n.-121+69023_-121+69024dup | |
| NM_001292035.2:c.6+69023_6+69024dup | NP_001278964.1:n.6+69023_6+69024dup | |
| NM_001292035.3:c.6+69023_6+69024dup | NP_001278964.1:n.6+69023_6+69024dup |