Linked Data
dbSNP Id:
rs1175022315
gnomAD v3:
16-17138799-A-ACTC
gnomAD v4:
16-17138799-A-ACTC
MyVariant Identifiers:
chr16:g.17232656_17232657insCTC (hg19)
chr16:g.17138799_17138800insCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138800_17138802dup , CM000678.2:g.17138800_17138802dup | GRCh38 |
| NC_000016.9:g.17232657_17232659dup , CM000678.1:g.17232657_17232659dup | GRCh37 |
| NC_000016.8:g.17140158_17140160dup | NCBI36 |
| NG_015843.1:g.337080_337082dup | |
| NG_015843.2:g.337080_337082dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1588-271_1588-269dup MANE Select | ENSP00000261381.6:n.1588-271_1588-269dup | |
| ENST00000261381.6:c.1588-271_1588-269dup | ENSP00000261381.6:n.1588-271_1588-269dup | |
| NM_022166.3:c.1588-271_1588-269dup | NP_071449.1:n.1588-271_1588-269dup | |
| XM_011522574.1:c.1588-271_1588-269dup | XP_011520876.1:n.1588-271_1588-269dup | |
| XM_017023539.2:c.1588-271_1588-269dup | XP_016879028.1:n.1588-271_1588-269dup | |
| XM_017023540.2:c.1588-271_1588-269dup | XP_016879029.1:n.1588-271_1588-269dup | |
| NM_022166.4:c.1588-271_1588-269dup MANE Select | NP_071449.1:n.1588-271_1588-269dup |