Linked Data
dbSNP Id:
rs1364116749
gnomAD v3:
18-33735953-T-TAATC
gnomAD v4:
18-33735953-T-TAATC
MyVariant Identifiers:
chr18:g.31315917_31315918insAATC (hg19)
chr18:g.33735953_33735954insAATC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.33735955_33735958dup , CM000680.2:g.33735955_33735958dup | GRCh38 |
| NC_000018.9:g.31315919_31315922dup , CM000680.1:g.31315919_31315922dup | GRCh37 |
| NC_000018.8:g.29569917_29569920dup | NCBI36 |
| NG_055244.1:g.162379_162382dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696964.1:c.1085+1540_1085+1543dup | ENSP00000513003.1:n.1085+1540_1085+1543dup | |
| ENST00000269197.12:c.1082+1540_1082+1543dup MANE Select | ENSP00000269197.4:n.1082+1540_1082+1543dup | |
| ENST00000592288.6:c.*206+1540_*206+1543dup | ENSP00000465053.1:n.*206+1540_*206+1543dup | |
| ENST00000592541.6:c.*741+1540_*741+1543dup | ENSP00000466655.2:n.*741+1540_*741+1543dup | |
| ENST00000593195.6:c.1294+1540_1294+1543dup | ENSP00000466073.1:n.1294+1540_1294+1543dup | |
| ENST00000642541.1:c.914+1540_914+1543dup | ENSP00000493665.1:n.914+1540_914+1543dup | |
| ENST00000681521.1:c.962+1540_962+1543dup | ENSP00000506037.1:n.962+1540_962+1543dup | |
| ENST00000269197.9:c.1082+1540_1082+1543dup | ENSP00000269197.4:n.1082+1540_1082+1543dup | |
| ENST00000592288.5:c.*206+1540_*206+1543dup | ENSP00000465053.1:n.*206+1540_*206+1543dup | |
| NM_030632.1:c.1082+1540_1082+1543dup | NP_085135.1:n.1082+1540_1082+1543dup | |
| XM_005258356.1:c.1085+1540_1085+1543dup | XP_005258413.1:n.1085+1540_1085+1543dup | |
| XM_011526205.1:c.1058+1540_1058+1543dup | XP_011524507.1:n.1058+1540_1058+1543dup | |
| XM_011526206.1:c.1004+1540_1004+1543dup | XP_011524508.1:n.1004+1540_1004+1543dup | |
| XM_011526207.1:c.1004+1540_1004+1543dup | XP_011524509.1:n.1004+1540_1004+1543dup | |
| XM_011526208.1:c.965+1540_965+1543dup | XP_011524510.1:n.965+1540_965+1543dup | |
| XM_011526209.1:c.914+1540_914+1543dup | XP_011524511.1:n.914+1540_914+1543dup | |
| XM_011526210.1:c.914+1540_914+1543dup | XP_011524512.1:n.914+1540_914+1543dup | |
| XM_011526211.1:c.914+1540_914+1543dup | XP_011524513.1:n.914+1540_914+1543dup | |
| XM_011526212.1:c.914+1540_914+1543dup | XP_011524514.1:n.914+1540_914+1543dup | |
| XM_011526213.1:c.914+1540_914+1543dup | XP_011524515.1:n.914+1540_914+1543dup | |
| XM_011526214.1:c.914+1540_914+1543dup | XP_011524516.1:n.914+1540_914+1543dup | |
| NM_030632.2:c.1082+1540_1082+1543dup | NP_085135.1:n.1082+1540_1082+1543dup | |
| XM_011526205.2:c.1058+1540_1058+1543dup | XP_011524507.1:n.1058+1540_1058+1543dup | |
| XM_011526206.2:c.1004+1540_1004+1543dup | XP_011524508.1:n.1004+1540_1004+1543dup | |
| XM_011526213.2:c.914+1540_914+1543dup | XP_011524515.1:n.914+1540_914+1543dup | |
| XM_017026012.1:c.1004+1540_1004+1543dup | XP_016881501.1:n.1004+1540_1004+1543dup | |
| XM_017026013.1:c.914+1540_914+1543dup | XP_016881502.1:n.914+1540_914+1543dup | |
| XM_017026014.2:c.914+1540_914+1543dup | XP_016881503.1:n.914+1540_914+1543dup | |
| XM_024451269.1:c.914+1540_914+1543dup | XP_024307037.1:n.914+1540_914+1543dup | |
| NM_030632.3:c.1082+1540_1082+1543dup MANE Select | NP_085135.1:n.1082+1540_1082+1543dup |