Linked Data
dbSNP Id:
rs57581979
gnomAD v2:
6-35791254-A-ACTCT
gnomAD v3:
6-35823477-A-ACTCT
gnomAD v4:
6-35823477-A-ACTCT
MyVariant Identifiers:
chr6:g.35791254_35791255insCTCT (hg19)
chr6:g.35823477_35823478insCTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823489_35823492dup , CM000668.2:g.35823489_35823492dup | GRCh38 |
| NC_000006.11:g.35791266_35791269dup , CM000668.1:g.35791266_35791269dup | GRCh37 |
| NC_000006.10:g.35899244_35899247dup | NCBI36 |
| NG_012184.1:g.23196_23199dup | |
| NG_012184.2:g.23196_23199dup | |
| NG_012184.3:g.31284_31287dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*524_*527dup MANE Select | ENSP00000353346.1:n.*524_*527dup | |
| ENST00000496656.2:n.578+3669_578+3672dup | ||
| ENST00000651132.1:c.*524_*527dup | ENSP00000498322.1:n.*524_*527dup | |
| ENST00000651676.1:c.*16+4026_*16+4029dup | ENSP00000498699.1:n.*16+4026_*16+4029dup | |
| ENST00000651994.1:c.*604_*607dup | ENSP00000498310.1:n.*604_*607dup | |
| ENST00000652718.1:c.508+4026_508+4029dup | ENSP00000498866.1:n.508+4026_508+4029dup | |
| ENST00000360215.2:c.*524_*527dup | ENSP00000353346.1:n.*524_*527dup | |
| ENST00000496656.1:n.812+3669_812+3672dup | ||
| NM_182548.3:c.*524_*527dup | NP_872354.1:n.*524_*527dup | |
| NM_182548.4:c.*524_*527dup MANE Select | NP_872354.1:n.*524_*527dup |