Linked Data
dbSNP Id:
rs1230970511
gnomAD v2:
6-121767873-A-ACGTGAAAC
gnomAD v3:
6-121446727-A-ACGTGAAAC
gnomAD v4:
6-121446727-A-ACGTGAAAC
MyVariant Identifiers:
chr6:g.121767873_121767874insCGTGAAAC (hg19)
chr6:g.121446727_121446728insCGTGAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121446731_121446738dup , CM000668.2:g.121446731_121446738dup | GRCh38 |
| NC_000006.11:g.121767877_121767884dup , CM000668.1:g.121767877_121767884dup | GRCh37 |
| NC_000006.10:g.121809576_121809583dup | NCBI36 |
| NG_008308.1:g.16133_16140dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.-16-101_-16-94dup MANE Select | ENSP00000282561.3:n.-16-101_-16-94dup | |
| ENST00000647564.1:c.-16-101_-16-94dup | ENSP00000497565.1:n.-16-101_-16-94dup | |
| ENST00000649003.1:c.-16-101_-16-94dup | ENSP00000497283.1:n.-16-101_-16-94dup | |
| ENST00000650427.1:c.-16-101_-16-94dup | ENSP00000497367.1:n.-16-101_-16-94dup | |
| ENST00000282561.3:c.-16-101_-16-94dup | ENSP00000282561.3:n.-16-101_-16-94dup | |
| NM_000165.4:c.-16-101_-16-94dup | NP_000156.1:n.-16-101_-16-94dup | |
| NM_000165.5:c.-16-101_-16-94dup MANE Select | NP_000156.1:n.-16-101_-16-94dup |