Linked Data
dbSNP Id:
rs757005175
ExAC:
6:52344538 T / TCAGAAC
gnomAD v2:
6-52344538-T-TCAGAAC
gnomAD v4:
6-52479740-T-TCAGAAC
MyVariant Identifiers:
chr6:g.52344538_52344539insCAGAAC (hg19)
chr6:g.52479740_52479741insCAGAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479743_52479748dup , CM000668.2:g.52479743_52479748dup | GRCh38 |
| NC_000006.11:g.52344541_52344546dup , CM000668.1:g.52344541_52344546dup | GRCh37 |
| NC_000006.10:g.52452500_52452505dup | NCBI36 |
| NG_016760.1:g.64548_64553dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1596_1601dup MANE Select | ENSP00000360107.4:p.Asn533_His534insGlnAsn | |
| ENST00000480623.6:c.1596_1601dup | ENSP00000434498.2:p.Asn533_His534insGlnAsn | |
| ENST00000635760.1:c.1272_1277dup | ENSP00000489765.1:p.Asn425_His426insGlnAsn | |
| ENST00000635812.1:c.*897_*902dup | ENSP00000490859.1:n.*897_*902dup | |
| ENST00000635866.1:c.*1465_*1470dup | ENSP00000489866.1:n.*1465_*1470dup | |
| ENST00000635911.1:n.3114_3119dup | ||
| ENST00000635984.1:c.1272_1277dup | ENSP00000489921.1:p.Asn425_His426insGlnAsn | |
| ENST00000635996.1:c.1596_1601dup | ENSP00000490256.1:p.Asn533_His534insGlnAsn | |
| ENST00000636107.1:c.1596_1601dup | ENSP00000489680.1:p.Asn533_His534insGlnAsn | |
| ENST00000636311.1:n.1490_1495dup | ||
| ENST00000636343.1:c.1262_1267dup | ||
| ENST00000636379.1:c.1308_1313dup | ENSP00000490622.1:p.Asn437_His438insGlnAsn | |
| ENST00000636398.1:c.1296_1301dup | ENSP00000489654.1:n.1296_1301dup | |
| ENST00000636489.1:c.1539_1544dup | ENSP00000489998.1:p.Asn514_His515insGlnAsn | |
| ENST00000636616.1:n.1157_1162dup | ||
| ENST00000636702.1:c.1566_1571dup | ENSP00000489623.1:p.Asn523_His524insGlnAsn | |
| ENST00000636954.1:c.1539_1544dup | ENSP00000489966.1:p.Asn514_His515insGlnAsn | |
| ENST00000637089.1:c.1596_1601dup | ENSP00000489854.1:p.Asn533_His534insGlnAsn | |
| ENST00000637121.1:n.1398_1403dup | ||
| ENST00000637263.1:c.1596_1601dup | ENSP00000489700.1:p.Asn533_His534insGlnAsn | |
| ENST00000637340.1:n.3521_3526dup | ||
| ENST00000637353.1:c.1596_1601dup | ENSP00000490441.1:p.Asn533_His534insGlnAsn | |
| ENST00000637602.1:c.*1297_*1302dup | ENSP00000490074.1:n.*1297_*1302dup | |
| ENST00000637849.1:n.1660_1665dup | ||
| ENST00000637892.1:n.1800_1805dup | ||
| ENST00000371068.9:c.1596_1601dup | ENSP00000360107.4:p.Asn533_His534insGlnAsn | |
| ENST00000480623.5:c.*2016_*2021dup | ENSP00000434498.1:n.*2016_*2021dup | |
| ENST00000538167.2:c.1539_1544dup | ENSP00000444521.1:p.Asn514_His515insGlnAsn | |
| NM_001172420.1:c.1539_1544dup | NP_001165891.1:p.Asn514_His515insGlnAsn | |
| NM_018100.3:c.1596_1601dup | NP_060570.2:p.Asn533_His534insGlnAsn | |
| NR_033327.1:n.3068_3073dup | ||
| NM_018100.4:c.1596_1601dup MANE Select | NP_060570.2:p.Asn533_His534insGlnAsn | |
| NM_001172420.2:c.1539_1544dup | NP_001165891.1:p.Asn514_His515insGlnAsn | |
| NR_033327.2:n.2922_2927dup |