Linked Data
dbSNP Id:
rs1224084160
gnomAD v3:
16-11292846-A-AACT
gnomAD v4:
16-11292846-A-AACT
MyVariant Identifiers:
chr16:g.11386703_11386704insACT (hg19)
chr16:g.11292846_11292847insACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11292849_11292851dup , CM000678.2:g.11292849_11292851dup | GRCh38 |
| NC_000016.9:g.11386706_11386708dup , CM000678.1:g.11386706_11386708dup | GRCh37 |
| NC_000016.8:g.11294207_11294209dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649869.1:n.152+43071_152+43073dup | ||
| ENST00000572173.1:c.-515-2367_-515-2365dup | ENSP00000461206.1:n.-515-2367_-515-2365dup | |
| ENST00000573910.1:n.161-23603_161-23601dup | ||
| XR_933070.1:n.733+43071_733+43073dup | ||
| XR_933070.3:n.876+43071_876+43073dup |