Linked Data
dbSNP Id:
rs1567442968
gnomAD v2:
16-56928575-T-TG
gnomAD v3:
16-56894663-T-TG
gnomAD v4:
16-56894663-T-TG
MyVariant Identifiers:
chr16:g.56928576_56928577insG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56894668dup , CM000678.2:g.56894668dup | GRCh38 |
| NC_000016.9:g.56928580dup , CM000678.1:g.56928580dup | GRCh37 |
| NC_000016.8:g.55486081dup | NCBI36 |
| NG_009386.1:g.34462dup | |
| NG_009386.2:g.34462dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2633+26dup MANE Select | ENSP00000456149.2:n.2633+26dup | |
| ENST00000262502.5:c.2630+26dup | ENSP00000262502.5:n.2630+26dup | |
| ENST00000438926.6:c.2660+26dup | ENSP00000402152.2:n.2660+26dup | |
| ENST00000563236.5:c.2633+26dup | ENSP00000456149.1:n.2633+26dup | |
| ENST00000566786.5:c.2657+26dup | ENSP00000457552.1:n.2657+26dup | |
| NM_000339.2:c.2660+26dup | NP_000330.2:n.2660+26dup | |
| NM_001126107.1:c.2657+26dup | NP_001119579.1:n.2657+26dup | |
| NM_001126108.1:c.2633+26dup | NP_001119580.1:n.2633+26dup | |
| XM_005256119.1:c.2630+26dup | XP_005256176.1:n.2630+26dup | |
| XM_005256119.2:c.2630+26dup | XP_005256176.1:n.2630+26dup | |
| NM_000339.3:c.2660+26dup | NP_000330.3:n.2660+26dup | |
| NM_001126107.2:c.2657+26dup | NP_001119579.2:n.2657+26dup | |
| NM_001126108.2:c.2633+26dup MANE Select | NP_001119580.2:n.2633+26dup |