Linked Data
dbSNP Id:
rs1564161575
gnomAD v2:
9-131302514-A-AT
gnomAD v3:
9-128540235-A-AT
gnomAD v4:
9-128540235-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128540236dup , CM000671.2:g.128540236dup | GRCh38 |
| NC_000009.11:g.131302515dup , CM000671.1:g.131302515dup | GRCh37 |
| NC_000009.10:g.130342336dup | NCBI36 |
| NG_012073.1:g.40545dup , LRG_484:g.40545dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1036-39dup | ENSP00000507095.1:n.*1036-39dup | |
| ENST00000683288.1:c.*1964-39dup | ENSP00000507477.1:n.*1964-39dup | |
| ENST00000683748.1:c.1992-39dup | ENSP00000507377.1:n.1992-39dup | |
| ENST00000683905.1:c.*641-39dup | ENSP00000506960.1:n.*641-39dup | |
| ENST00000684139.1:c.1500-39dup | ENSP00000507295.1:n.1500-39dup | |
| ENST00000684210.1:n.1678-39dup | ||
| ENST00000684314.1:c.1860-39dup | ENSP00000507700.1:n.1860-39dup | |
| ENST00000684331.1:c.1965-39dup | ENSP00000507431.1:n.1965-39dup | |
| ENST00000684463.1:n.603-39dup | ||
| ENST00000684646.1:c.1752-39dup | ENSP00000507723.1:n.1752-39dup | |
| ENST00000309971.9:c.1965-39dup MANE Select | ENSP00000308622.5:n.1965-39dup | |
| ENST00000309971.8:c.1965-39dup | ENSP00000308622.4:n.1965-39dup | |
| NM_001003722.1:c.1965-39dup , LRG_484t1:c.1965-39dup | NP_001003722.1:n.1965-39dup | |
| XM_006717059.2:c.2001-39dup | XP_006717122.1:n.2001-39dup | |
| XM_006717060.2:c.1974-39dup | XP_006717123.1:n.1974-39dup | |
| XM_011518549.1:c.2001-39dup | XP_011516851.1:n.2001-39dup | |
| XM_011518550.1:c.2001-39dup | XP_011516852.1:n.2001-39dup | |
| XM_011518551.1:c.1992-39dup | XP_011516853.1:n.1992-39dup | |
| XM_011518552.1:c.1242-39dup | XP_011516854.1:n.1242-39dup | |
| XR_242681.3:n.100+3143dup | ||
| XR_428600.2:n.124+734dup | ||
| XM_006717059.3:c.2001-39dup | XP_006717122.1:n.2001-39dup | |
| XM_006717060.3:c.1974-39dup | XP_006717123.1:n.1974-39dup | |
| XM_011518551.2:c.1992-39dup | XP_011516853.1:n.1992-39dup | |
| XM_024447519.1:c.1974-39dup | XP_024303287.1:n.1974-39dup | |
| XR_428600.3:n.126+734dup | ||
| NM_001003722.2:c.1965-39dup MANE Select | NP_001003722.1:n.1965-39dup |