Linked Data
dbSNP Id:
rs1555806774
gnomAD v2:
19-11228602-C-CCG
gnomAD v3:
19-11117926-C-CCG
gnomAD v4:
19-11117926-C-CCG
MyVariant Identifiers:
chr19:g.11228603_11228604delinsCGTG (hg19)
chr19:g.11117927_11117928delinsCGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11117926_11117927insCG , CM000681.2:g.11117926_11117927insCG | GRCh38 |
| NC_000019.9:g.11228602_11228603insCG , CM000681.1:g.11228602_11228603insCG | GRCh37 |
| NC_000019.8:g.11089602_11089603insCG | NCBI36 |
| NG_009060.1:g.33546_33547insCG , LRG_274:g.33546_33547insCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2103+928_2103+929insCG | ENSP00000252444.6:n.2103+928_2103+929insCG | |
| ENST00000559340.2:c.1705+1714_1705+1715insCG | ENSP00000453696.2:n.1705+1714_1705+1715insCG | |
| ENST00000560467.2:c.1725+928_1725+929insCG | ENSP00000453513.2:n.1725+928_1725+929insCG | |
| ENST00000558518.6:c.1845+928_1845+929insCG MANE Select | ENSP00000454071.1:n.1845+928_1845+929insCG | |
| ENST00000252444.9:c.2099+928_2099+929insCG | ||
| ENST00000455727.6:c.1341+928_1341+929insCG | ENSP00000397829.2:n.1341+928_1341+929insCG | |
| ENST00000535915.5:c.1722+928_1722+929insCG | ENSP00000440520.1:n.1722+928_1722+929insCG | |
| ENST00000545707.5:c.1464+928_1464+929insCG | ENSP00000437639.1:n.1464+928_1464+929insCG | |
| ENST00000557933.5:c.1845+928_1845+929insCG | ENSP00000453557.1:n.1845+928_1845+929insCG | |
| ENST00000558013.5:c.1845+928_1845+929insCG | ENSP00000453346.1:n.1845+928_1845+929insCG | |
| ENST00000558518.5:c.1845+928_1845+929insCG | ENSP00000454071.1:n.1845+928_1845+929insCG | |
| ENST00000559340.1:c.426+1714_426+1715insCG | ||
| NM_000527.4:c.1845+928_1845+929insCG , LRG_274t1:c.1845+928_1845+929insCG | NP_000518.1:n.1845+928_1845+929insCG | |
| NM_001195798.1:c.1845+928_1845+929insCG | NP_001182727.1:n.1845+928_1845+929insCG | |
| NM_001195799.1:c.1722+928_1722+929insCG | NP_001182728.1:n.1722+928_1722+929insCG | |
| NM_001195800.1:c.1341+928_1341+929insCG | NP_001182729.1:n.1341+928_1341+929insCG | |
| NM_001195803.1:c.1464+928_1464+929insCG | NP_001182732.1:n.1464+928_1464+929insCG | |
| XM_011528010.1:c.1845+928_1845+929insCG | XP_011526312.1:n.1845+928_1845+929insCG | |
| XM_011528011.1:c.1464+928_1464+929insCG | XP_011526313.1:n.1464+928_1464+929insCG | |
| XR_244074.2:n.1855+1714_1855+1715insCG | ||
| XM_011528010.2:c.1845+928_1845+929insCG | XP_011526312.1:n.1845+928_1845+929insCG | |
| XR_001753685.2:n.1962+928_1962+929insCG | ||
| XR_001753686.2:n.1822+1714_1822+1715insCG | ||
| NM_000527.5:c.1845+928_1845+929insCG MANE Select | NP_000518.1:n.1845+928_1845+929insCG | |
| NM_001195798.2:c.1845+928_1845+929insCG | NP_001182727.1:n.1845+928_1845+929insCG | |
| NM_001195799.2:c.1722+928_1722+929insCG | NP_001182728.1:n.1722+928_1722+929insCG | |
| NM_001195800.2:c.1341+928_1341+929insCG | NP_001182729.1:n.1341+928_1341+929insCG | |
| NM_001195803.2:c.1464+928_1464+929insCG | NP_001182732.1:n.1464+928_1464+929insCG |