Linked Data
dbSNP Id:
rs763606003
ExAC:
19:18710446 C / CGCT
gnomAD v2:
19-18710446-C-CGCT
gnomAD v4:
19-18599636-C-CGCT
MyVariant Identifiers:
chr19:g.18710446_18710447insGCT (hg19)
chr19:g.18599636_18599637insGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18599639_18599641dup , CM000681.2:g.18599639_18599641dup | GRCh38 |
| NC_000019.9:g.18710449_18710451dup , CM000681.1:g.18710449_18710451dup | GRCh37 |
| NC_000019.8:g.18571449_18571451dup | NCBI36 |
| NG_013370.1:g.12212_12214dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.323_325dup | ENSP00000506849.1:p.Gln108_Arg109insGln | |
| ENST00000392386.8:c.323_325dup MANE Select | ENSP00000376188.2:p.Gln108_Arg109insGln | |
| ENST00000392386.7:c.323_325dup | ENSP00000376188.2:p.Gln108_Arg109insGln | |
| NM_004750.4:c.323_325dup | NP_004741.1:p.Gln108_Arg109insGln | |
| XM_011528422.1:c.257_259dup | XP_011526724.1:p.Gln86_Arg87insGln | |
| XM_011528423.1:c.323_325dup | XP_011526725.1:p.Gln108_Arg109insGln | |
| XM_011528424.1:c.257_259dup | XP_011526726.1:p.Gln86_Arg87insGln | |
| XM_011528422.2:c.257_259dup | XP_011526724.1:p.Gln86_Arg87insGln | |
| XM_011528423.2:c.323_325dup | XP_011526725.1:p.Gln108_Arg109insGln | |
| XM_011528424.3:c.257_259dup | XP_011526726.1:p.Gln86_Arg87insGln | |
| NM_004750.5:c.323_325dup MANE Select | NP_004741.1:p.Gln108_Arg109insGln |