Linked Data
ClinVar Variation Id:
1066472
dbSNP Id:
rs1970722328
gnomAD v3:
19-12897818-G-GT
gnomAD v4:
19-12897818-G-GT
MyVariant Identifiers:
chr19:g.13008633dup (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12897819dup , CM000681.2:g.12897819dup | GRCh38 |
| NC_000019.9:g.13008633dup , CM000681.1:g.13008633dup | GRCh37 |
| NC_000019.8:g.12869633dup | NCBI36 |
| NG_009292.1:g.11660dup | |
| NG_033049.1:g.26454dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.1199dup MANE Select | ENSP00000222214.4:p.Ile401AspfsTer18 | |
| ENST00000222214.9:c.1199dup | ENSP00000222214.4:p.Ile401AspfsTer18 | |
| ENST00000585420.5:n.1529dup | ||
| ENST00000590472.5:c.243dup | ||
| ENST00000590530.5:c.*639dup | ENSP00000468452.1:n.*639dup | |
| ENST00000591043.1:n.1509dup | ||
| ENST00000591050.1:c.166dup | ||
| ENST00000591470.5:c.1199dup | ENSP00000466845.1:p.Ile401AspfsTer18 | |
| NM_000159.3:c.1199dup | NP_000150.1:p.Ile401AspfsTer18 | |
| NM_013976.3:c.1199dup | NP_039663.1:p.Ile401AspfsTer? | |
| NR_102316.1:n.1362dup | ||
| NR_102317.1:n.1580dup | ||
| XM_006722721.2:c.1199dup | XP_006722784.1:p.Ile401AspfsTer? | |
| XM_011527899.1:c.1199dup | XP_011526201.1:p.Ile401AspfsTer16 | |
| XM_011527900.1:c.1199dup | XP_011526202.1:p.Ile401AspfsTer? | |
| XM_011527899.2:c.1199dup | XP_011526201.1:p.Ile401AspfsTer16 | |
| XM_011527900.2:c.1199dup | XP_011526202.1:p.Ile401AspfsTer? | |
| XM_017026580.1:c.1199dup | XP_016882069.1:p.Ile401AspfsTer? | |
| NM_000159.4:c.1199dup MANE Select | NP_000150.1:p.Ile401AspfsTer18 | |
| NM_013976.4:c.1199dup | NP_039663.1:p.Ile401AspfsTer? | |
| NM_013976.5:c.1199dup | NP_039663.1:p.Ile401AspfsTer? |