Linked Data
dbSNP Id:
rs759117233
ExAC:
18:33694355 C / CTCT
gnomAD v2:
18-33694355-C-CTCT
gnomAD v3:
18-36114392-C-CTCT
gnomAD v4:
18-36114392-C-CTCT
MyVariant Identifiers:
chr18:g.33694355_33694356insTCT (hg19)
chr18:g.36114392_36114393insTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36114401_36114403dup , CM000680.2:g.36114401_36114403dup | GRCh38 |
| NC_000018.9:g.33694364_33694366dup , CM000680.1:g.33694364_33694366dup | GRCh37 |
| NC_000018.8:g.31948362_31948364dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269187.10:c.1545_1547dup MANE Select | ENSP00000269187.4:p.Glu516_Val517insGlu | |
| ENST00000269187.9:c.1545_1547dup | ENSP00000269187.4:p.Glu516_Val517insGlu | |
| ENST00000440549.6:c.720_722dup | ENSP00000401139.1:p.Glu241_Val242insGlu | |
| ENST00000586829.1:c.246_248dup | ENSP00000467724.1:p.Glu83_Val84insGlu | |
| ENST00000590986.5:c.1545_1547dup | ENSP00000465915.1:p.Glu516_Val517insGlu | |
| NM_001099406.1:c.720_722dup | NP_001092876.1:p.Glu241_Val242insGlu | |
| NM_012319.3:c.1545_1547dup | NP_036451.3:p.Glu516_Val517insGlu | |
| XM_011525900.1:c.1545_1547dup | XP_011524202.1:p.Glu516_Val517insGlu | |
| XM_011525901.1:c.1545_1547dup | XP_011524203.1:p.Glu516_Val517insGlu | |
| XM_011525900.2:c.1545_1547dup | XP_011524202.1:p.Glu516_Val517insGlu | |
| XM_011525901.2:c.1545_1547dup | XP_011524203.1:p.Glu516_Val517insGlu | |
| NM_012319.4:c.1545_1547dup MANE Select | NP_036451.4:p.Glu516_Val517insGlu | |
| NM_001099406.2:c.720_722dup | NP_001092876.1:p.Glu241_Val242insGlu |