Linked Data
dbSNP Id:
rs1688551498
gnomAD v3:
2-202555506-C-CCACAAA
gnomAD v4:
2-202555506-C-CCACAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202555510_202555515dup , CM000664.2:g.202555510_202555515dup | GRCh38 |
| NC_000002.11:g.203420233_203420238dup , CM000664.1:g.203420233_203420238dup | GRCh37 |
| NC_000002.10:g.203128478_203128483dup | NCBI36 |
| NG_009363.1:g.184184_184189dup , LRG_712:g.184184_184189dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1845_1850dup MANE Select | ENSP00000363708.4:p.Thr617_Thr618insAsnThr | |
| ENST00000638587.1:c.1776_1781dup | ENSP00000491062.1:n.1776_1781dup | |
| ENST00000374574.2:c.1586+2622_1586+2627dup | ENSP00000363702.2:n.1586+2622_1586+2627dup | |
| ENST00000374580.8:c.1845_1850dup | ENSP00000363708.4:p.Thr617_Thr618insAsnThr | |
| NM_001204.6:c.1845_1850dup , LRG_712t1:c.1845_1850dup | NP_001195.2:p.Thr617_Thr618insAsnThr | |
| XM_011511687.1:c.1845_1850dup | XP_011509989.1:p.Thr617_Thr618insAsnThr | |
| XM_011511688.1:c.1586+2622_1586+2627dup | XP_011509990.1:n.1586+2622_1586+2627dup | |
| NM_001204.7:c.1845_1850dup MANE Select | NP_001195.2:p.Thr617_Thr618insAsnThr |