Linked Data
dbSNP Id:
rs1568304585
gnomAD v2:
19-853436-G-GGAGGCCA
gnomAD v4:
19-853436-G-GGAGGCCA
MyVariant Identifiers:
chr19:g.853436_853437insGAGGCCA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.853443_853449dup , CM000681.2:g.853443_853449dup | GRCh38 |
| NC_000019.9:g.853443_853449dup , CM000681.1:g.853443_853449dup | GRCh37 |
| NC_000019.8:g.804443_804449dup | NCBI36 |
| NG_009627.1:g.6153_6159dup , LRG_57:g.6153_6159dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.366+40_366+46dup MANE Select | ENSP00000263621.1:n.366+40_366+46dup | |
| ENST00000263621.1:c.366+40_366+46dup | ENSP00000263621.1:n.366+40_366+46dup | |
| ENST00000590230.5:c.366+40_366+46dup | ENSP00000466090.1:n.366+40_366+46dup | |
| NM_001972.2:c.366+40_366+46dup , LRG_57t1:c.366+40_366+46dup | NP_001963.1:n.366+40_366+46dup | |
| XM_011527775.1:c.366+40_366+46dup | XP_011526077.1:n.366+40_366+46dup | |
| XM_011527776.1:c.366+40_366+46dup | XP_011526078.1:n.366+40_366+46dup | |
| NM_001972.3:c.366+40_366+46dup | NP_001963.1:n.366+40_366+46dup | |
| NM_001972.4:c.366+40_366+46dup MANE Select | NP_001963.1:n.366+40_366+46dup |