Linked Data
dbSNP Id:
rs992966619
gnomAD v3:
16-13944592-C-CTTGTTT
gnomAD v4:
16-13944592-C-CTTGTTT
MyVariant Identifiers:
chr16:g.14038449_14038450insTTGTTT (hg19)
chr16:g.13944592_13944593insTTGTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13944607_13944612dup , CM000678.2:g.13944607_13944612dup | GRCh38 |
| NC_000016.9:g.14038464_14038469dup , CM000678.1:g.14038464_14038469dup | GRCh37 |
| NC_000016.8:g.13945965_13945970dup | NCBI36 |
| NG_011442.1:g.29451_29456dup , LRG_463:g.29451_29456dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2043-116_2043-111dup | ENSP00000507912.1:n.2043-116_2043-111dup | |
| ENST00000683962.1:c.*1599-116_*1599-111dup | ENSP00000506854.1:n.*1599-116_*1599-111dup | |
| ENST00000311895.8:c.1905-116_1905-111dup MANE Select | ENSP00000310520.7:n.1905-116_1905-111dup | |
| ENST00000311895.7:c.1905-116_1905-111dup | ENSP00000310520.7:n.1905-116_1905-111dup | |
| ENST00000389138.7:n.1182-116_1182-111dup | ||
| ENST00000462862.1:c.218-116_218-111dup | ENSP00000461322.1:n.218-116_218-111dup | |
| NM_005236.2:c.1905-116_1905-111dup , LRG_463t1:c.1905-116_1905-111dup | NP_005227.1:n.1905-116_1905-111dup | |
| XM_011522424.1:c.2043-116_2043-111dup | XP_011520726.1:n.2043-116_2043-111dup | |
| XM_011522425.1:c.1362-116_1362-111dup | XP_011520727.1:n.1362-116_1362-111dup | |
| XM_011522426.1:c.1116-116_1116-111dup | XP_011520728.1:n.1116-116_1116-111dup | |
| XM_011522427.1:c.555-116_555-111dup | XP_011520729.1:n.555-116_555-111dup | |
| XR_932805.1:n.2064-116_2064-111dup | ||
| XM_011522424.3:c.2043-116_2043-111dup | XP_011520726.1:n.2043-116_2043-111dup | |
| XM_017023043.2:c.1116-116_1116-111dup | XP_016878532.1:n.1116-116_1116-111dup | |
| NM_005236.3:c.1905-116_1905-111dup MANE Select | NP_005227.1:n.1905-116_1905-111dup |