Linked Data
dbSNP Id:
rs35048370
gnomAD v3:
19-47003918-G-GCACACACACACA
gnomAD v4:
19-47003918-G-GCACACACACACA
MyVariant Identifiers:
chr19:g.47507175_47507176insCACACACACACA (hg19)
chr19:g.47003918_47003919insCACACACACACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003939_47003950dup , CM000681.2:g.47003939_47003950dup | GRCh38 |
| NC_000019.9:g.47507196_47507207dup , CM000681.1:g.47507196_47507207dup | GRCh37 |
| NC_000019.8:g.52199036_52199047dup | NCBI36 |
| NG_047014.1:g.90373_90384dup | |
| NG_047014.2:g.147943_147954dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7751_7762dup | ENSP00000385720.2:n.7751_7762dup | |
| ENST00000672722.1:c.*3251_*3262dup MANE Select | ENSP00000500409.1:n.*3251_*3262dup | |
| ENST00000404338.7:c.7751_7762dup | ENSP00000385720.2:n.7751_7762dup | |
| ENST00000614079.1:c.7328_7339dup | ENSP00000483730.1:n.7328_7339dup | |
| NM_004491.4:c.7751_7762dup | NP_004482.4:n.7751_7762dup | |
| NM_004491.5:c.*3251_*3262dup MANE Select | NP_004482.4:n.*3251_*3262dup |