Linked Data
dbSNP Id:
rs1188386551
gnomAD v3:
19-38485916-A-AAAATGGTC
gnomAD v4:
19-38485916-A-AAAATGGTC
MyVariant Identifiers:
chr19:g.38976556_38976557insAAATGGTC (hg19)
chr19:g.38485916_38485917insAAATGGTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38485918_38485925dup , CM000681.2:g.38485918_38485925dup | GRCh38 |
| NC_000019.9:g.38976558_38976565dup , CM000681.1:g.38976558_38976565dup | GRCh37 |
| NC_000019.8:g.43668398_43668405dup | NCBI36 |
| NG_008866.1:g.57219_57226dup , LRG_766:g.57219_57226dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.5263_5270dup | ENSP00000471601.2:p.His1757GlnfsTer18 | |
| ENST00000359596.8:c.5263_5270dup MANE Select | ENSP00000352608.2:p.His1757GlnfsTer18 | |
| ENST00000355481.8:c.5263_5270dup | ENSP00000347667.3:p.His1757GlnfsTer18 | |
| ENST00000359596.7:c.5263_5270dup | ENSP00000352608.2:p.His1757GlnfsTer18 | |
| ENST00000360985.7:c.5260_5267dup | ENSP00000354254.4:p.His1756GlnfsTer18 | |
| NM_000540.2:c.5263_5270dup , LRG_766t1:c.5263_5270dup | NP_000531.2:p.His1757GlnfsTer18 | |
| NM_001042723.1:c.5263_5270dup | NP_001036188.1:p.His1757GlnfsTer18 | |
| XM_006723317.1:c.5263_5270dup | XP_006723380.1:p.His1757GlnfsTer18 | |
| XM_006723319.1:c.5263_5270dup | XP_006723382.1:p.His1757GlnfsTer18 | |
| XM_011527204.1:c.5260_5267dup | XP_011525506.1:p.His1756GlnfsTer18 | |
| XM_011527205.1:c.5263_5270dup | XP_011525507.1:p.His1757GlnfsTer18 | |
| XM_006723317.2:c.5263_5270dup | XP_006723380.1:p.His1757GlnfsTer18 | |
| XM_006723319.2:c.5263_5270dup | XP_006723382.1:p.His1757GlnfsTer18 | |
| XM_011527205.2:c.5263_5270dup | XP_011525507.1:p.His1757GlnfsTer18 | |
| XR_001753735.1:n.5346_5353dup | ||
| NM_000540.3:c.5263_5270dup MANE Select | NP_000531.2:p.His1757GlnfsTer18 | |
| NM_001042723.2:c.5263_5270dup | NP_001036188.1:p.His1757GlnfsTer18 |