Linked Data
dbSNP Id:
rs1567291281
gnomAD v2:
16-17232197-A-ATGAGAAAGTCTCACCTGGAAGCGGT
gnomAD v4:
16-17138340-A-ATGAGAAAGTCTCACCTGGAAGCGGT
MyVariant Identifiers:
chr16:g.17232197_17232198insTGAGAAAGTCTCACCTGGAAGCGGT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138341_17138365dup , CM000678.2:g.17138341_17138365dup | GRCh38 |
| NC_000016.9:g.17232198_17232222dup , CM000678.1:g.17232198_17232222dup | GRCh37 |
| NC_000016.8:g.17139699_17139723dup | NCBI36 |
| NG_015843.1:g.337517_337541dup | |
| NG_015843.2:g.337517_337541dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1754_1764+14dup | ||
| ENST00000261381.6:c.1754_1764+14dup | ||
| NM_022166.3:c.1754_1764+14dup | ||
| XM_011522574.1:c.1754_1764+14dup | ||
| XR_933141.1:n.274_298dup | ||
| NR_135179.1:n.246_270dup | ||
| XM_017023539.2:c.1754_1764+14dup | ||
| XM_017023540.2:c.1754_1764+14dup | ||
| NM_022166.4:c.1754_1764+14dup |