Linked Data
ClinVar Variation Id:
430785
ClinVar RCV Id:
RCV000495918
dbSNP Id:
rs1131692215
MyVariant Identifiers:
chr19:g.11227567_11227568insTGT (hg19)
chr19:g.11116891_11116892insTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116891_11116892insTGT , CM000681.2:g.11116891_11116892insTGT | GRCh38 |
| NC_000019.9:g.11227567_11227568insTGT , CM000681.1:g.11227567_11227568insTGT | GRCh37 |
| NC_000019.8:g.11088567_11088568insTGT | NCBI36 |
| NG_009060.1:g.32511_32512insTGT , LRG_274:g.32511_32512insTGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1996_1997insTGT | ENSP00000252444.6:p.Asp665_Ser666insLeu | |
| ENST00000559340.2:c.1705+679_1705+680insTGT | ENSP00000453696.2:n.1705+679_1705+680insT... | |
| ENST00000560467.2:c.1618_1619insTGT | ENSP00000453513.2:p.Asp539_Ser540insLeu | |
| ENST00000558518.6:c.1738_1739insTGT MANE Select | ENSP00000454071.1:p.Asp579_Ser580insLeu | |
| ENST00000252444.9:c.1992_1993insTGT | ||
| ENST00000455727.6:c.1234_1235insTGT | ENSP00000397829.2:p.Asp411_Ser412insLeu | |
| ENST00000535915.5:c.1615_1616insTGT | ENSP00000440520.1:p.Asp538_Ser539insLeu | |
| ENST00000545707.5:c.1357_1358insTGT | ENSP00000437639.1:p.Asp452_Ser453insLeu | |
| ENST00000557933.5:c.1738_1739insTGT | ENSP00000453557.1:p.Asp579_Ser580insLeu | |
| ENST00000558013.5:c.1738_1739insTGT | ENSP00000453346.1:p.Asp579_Ser580insLeu | |
| ENST00000558518.5:c.1738_1739insTGT | ENSP00000454071.1:p.Asp579_Ser580insLeu | |
| ENST00000559340.1:c.426+679_426+680insTGT | ||
| NM_000527.4:c.1738_1739insTGT , LRG_274t1:c.1738_1739insTGT | NP_000518.1:p.Asp579_Ser580insLeu | |
| NM_001195798.1:c.1738_1739insTGT | NP_001182727.1:p.Asp579_Ser580insLeu | |
| NM_001195799.1:c.1615_1616insTGT | NP_001182728.1:p.Asp538_Ser539insLeu | |
| NM_001195800.1:c.1234_1235insTGT | NP_001182729.1:p.Asp411_Ser412insLeu | |
| NM_001195803.1:c.1357_1358insTGT | NP_001182732.1:p.Asp452_Ser453insLeu | |
| XM_011528010.1:c.1738_1739insTGT | XP_011526312.1:p.Asp579_Ser580insLeu | |
| XM_011528011.1:c.1357_1358insTGT | XP_011526313.1:p.Asp452_Ser453insLeu | |
| XR_244074.2:n.1855+679_1855+680insTGT | ||
| XM_011528010.2:c.1738_1739insTGT | XP_011526312.1:p.Asp579_Ser580insLeu | |
| XR_001753685.2:n.1855_1856insTGT | ||
| XR_001753686.2:n.1822+679_1822+680insTGT | ||
| NM_000527.5:c.1738_1739insTGT MANE Select | NP_000518.1:p.Asp579_Ser580insLeu | |
| NM_001195798.2:c.1738_1739insTGT | NP_001182727.1:p.Asp579_Ser580insLeu | |
| NM_001195799.2:c.1615_1616insTGT | NP_001182728.1:p.Asp538_Ser539insLeu | |
| NM_001195800.2:c.1234_1235insTGT | NP_001182729.1:p.Asp411_Ser412insLeu | |
| NM_001195803.2:c.1357_1358insTGT | NP_001182732.1:p.Asp452_Ser453insLeu |