Linked Data
dbSNP Id:
rs1487219492
gnomAD v2:
16-223442-G-GGGCCCTC
gnomAD v3:
16-173443-G-GGGCCCTC
gnomAD v4:
16-173443-G-GGGCCCTC
MyVariant Identifiers:
chr16:g.223442_223443insGGCCCTC (hg19)
chr16:g.173443_173444insGGCCCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173447_173448insCTCGGCC , CM000678.2:g.173447_173448insCTCGGCC | GRCh38 |
| NC_000016.9:g.223446_223447insCTCGGCC , CM000678.1:g.223446_223447insCTCGGCC | GRCh37 |
| NC_000016.8:g.163446_163447insCTCGGCC | NCBI36 |
| NG_000006.1:g.34310_34311insCTCGGCC | |
| NG_059186.1:g.1797_1798insCTCGGCC | |
| NG_059271.1:g.5601_5602insCTCGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.301-25_301-24insCTCGGCC MANE Select | ENSP00000251595.6:n.301-25_301-24insCTCGGCC | |
| ENST00000251595.10:c.301-25_301-24insCTCGGCC | ENSP00000251595.6:n.301-25_301-24insCTCGGCC | |
| ENST00000397806.1:c.205-25_205-24insCTCGGCC | ENSP00000380908.1:n.205-25_205-24insCTCGGCC | |
| ENST00000482565.1:n.437-25_437-24insCTCGGCC | ||
| ENST00000484216.1:n.387_388insCTCGGCC | ||
| NM_000517.4:c.301-25_301-24insCTCGGCC | NP_000508.1:n.301-25_301-24insCTCGGCC | |
| NM_000517.6:c.301-25_301-24insCTCGGCC MANE Select | NP_000508.1:n.301-25_301-24insCTCGGCC |