Linked Data
dbSNP Id:
rs1555500981
gnomAD v3:
16-56887772-T-TTATATATATATA
gnomAD v4:
16-56887772-T-TTATATATATATA
MyVariant Identifiers:
chr16:g.56921684_56921685insTATATATATATA (hg19)
chr16:g.56887772_56887773insTATATATATATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56887788_56887799dup , CM000678.2:g.56887788_56887799dup | GRCh38 |
| NC_000016.9:g.56921700_56921711dup , CM000678.1:g.56921700_56921711dup | GRCh37 |
| NC_000016.8:g.55479201_55479212dup | NCBI36 |
| NG_009386.1:g.27582_27593dup | |
| NG_009386.2:g.27582_27593dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2179-137_2179-126dup MANE Select | ENSP00000456149.2:n.2179-137_2179-126dup | |
| ENST00000262502.5:c.2176-137_2176-126dup | ENSP00000262502.5:n.2176-137_2176-126dup | |
| ENST00000438926.6:c.2179-137_2179-126dup | ENSP00000402152.2:n.2179-137_2179-126dup | |
| ENST00000563236.5:c.2179-137_2179-126dup | ENSP00000456149.1:n.2179-137_2179-126dup | |
| ENST00000566786.5:c.2176-137_2176-126dup | ENSP00000457552.1:n.2176-137_2176-126dup | |
| NM_000339.2:c.2179-137_2179-126dup | NP_000330.2:n.2179-137_2179-126dup | |
| NM_001126107.1:c.2176-137_2176-126dup | NP_001119579.1:n.2176-137_2176-126dup | |
| NM_001126108.1:c.2179-137_2179-126dup | NP_001119580.1:n.2179-137_2179-126dup | |
| XM_005256119.1:c.2176-137_2176-126dup | XP_005256176.1:n.2176-137_2176-126dup | |
| XM_005256119.2:c.2176-137_2176-126dup | XP_005256176.1:n.2176-137_2176-126dup | |
| NM_000339.3:c.2179-137_2179-126dup | NP_000330.3:n.2179-137_2179-126dup | |
| NM_001126107.2:c.2176-137_2176-126dup | NP_001119579.2:n.2176-137_2176-126dup | |
| NM_001126108.2:c.2179-137_2179-126dup MANE Select | NP_001119580.2:n.2179-137_2179-126dup |