Linked Data
dbSNP Id:
rs1639592373
gnomAD v3:
1-12009463-C-CCTGGCTCAGGGCAGAGCTG
gnomAD v4:
1-12009463-C-CCTGGCTCAGGGCAGAGCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12009469_12009487dup , CM000663.2:g.12009469_12009487dup | GRCh38 |
| NC_000001.10:g.12069526_12069544dup , CM000663.1:g.12069526_12069544dup | GRCh37 |
| NC_000001.9:g.11992113_11992131dup | NCBI36 |
| NG_007945.1:g.34289_34307dup , LRG_255:g.34289_34307dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235329.10:c.2070-123_2070-105dup MANE Select | ENSP00000235329.5:n.2070-123_2070-105dup | |
| ENST00000674548.1:c.2070-123_2070-105dup | ENSP00000502185.1:n.2070-123_2070-105dup | |
| ENST00000674658.1:c.1725-123_1725-105dup | ENSP00000502334.1:n.1725-123_1725-105dup | |
| ENST00000674817.1:c.2070-123_2070-105dup | ENSP00000502151.1:n.2070-123_2070-105dup | |
| ENST00000674910.1:c.2070-123_2070-105dup | ENSP00000501716.1:n.2070-123_2070-105dup | |
| ENST00000675053.1:c.2070-123_2070-105dup | ENSP00000501646.1:n.2070-123_2070-105dup | |
| ENST00000675113.1:c.2070-123_2070-105dup | ENSP00000502623.1:n.2070-123_2070-105dup | |
| ENST00000675231.1:c.2070-123_2070-105dup | ENSP00000502404.1:n.2070-123_2070-105dup | |
| ENST00000675298.1:c.2070-123_2070-105dup | ENSP00000501839.1:n.2070-123_2070-105dup | |
| ENST00000675404.1:n.2305-123_2305-105dup | ||
| ENST00000675483.1:n.2198-123_2198-105dup | ||
| ENST00000675512.1:c.*2072-123_*2072-105dup | ENSP00000502630.1:n.*2072-123_*2072-105dup | |
| ENST00000675528.1:n.1561-123_1561-105dup | ||
| ENST00000675817.1:c.2202-123_2202-105dup | ENSP00000502422.1:n.2202-123_2202-105dup | |
| ENST00000675872.1:n.2430-123_2430-105dup | ||
| ENST00000675919.1:c.2070-123_2070-105dup | ENSP00000501776.1:n.2070-123_2070-105dup | |
| ENST00000675959.1:n.2576-123_2576-105dup | ||
| ENST00000675987.1:c.*43-123_*43-105dup | ENSP00000502145.1:n.*43-123_*43-105dup | |
| ENST00000676293.1:c.2070-123_2070-105dup | ENSP00000502362.1:n.2070-123_2070-105dup | |
| ENST00000676295.1:n.483-123_483-105dup | ||
| ENST00000676426.1:c.*1070-123_*1070-105dup | ENSP00000502359.1:n.*1070-123_*1070-105dup | |
| ENST00000235329.9:c.2070-123_2070-105dup | ENSP00000235329.5:n.2070-123_2070-105dup | |
| ENST00000444836.5:c.2070-123_2070-105dup | ENSP00000416338.1:n.2070-123_2070-105dup | |
| NM_001127660.1:c.2070-123_2070-105dup | NP_001121132.1:n.2070-123_2070-105dup | |
| NM_014874.3:c.2070-123_2070-105dup , LRG_255t1:c.2070-123_2070-105dup | NP_055689.1:n.2070-123_2070-105dup | |
| XM_005263543.2:c.2070-123_2070-105dup | XP_005263600.1:n.2070-123_2070-105dup | |
| XM_005263545.2:c.2070-123_2070-105dup | XP_005263602.1:n.2070-123_2070-105dup | |
| XM_005263547.2:c.2070-123_2070-105dup | XP_005263604.1:n.2070-123_2070-105dup | |
| XM_005263548.2:c.2070-123_2070-105dup | XP_005263605.1:n.2070-123_2070-105dup | |
| XM_005263543.3:c.2070-123_2070-105dup | XP_005263600.1:n.2070-123_2070-105dup | |
| XM_005263545.3:c.2070-123_2070-105dup | XP_005263602.1:n.2070-123_2070-105dup | |
| XM_005263547.3:c.2070-123_2070-105dup | XP_005263604.1:n.2070-123_2070-105dup | |
| XM_005263548.3:c.2070-123_2070-105dup | XP_005263605.1:n.2070-123_2070-105dup | |
| XM_024451299.1:c.2070-123_2070-105dup | XP_024307067.1:n.2070-123_2070-105dup | |
| NM_014874.4:c.2070-123_2070-105dup MANE Select | NP_055689.1:n.2070-123_2070-105dup | |
| NM_001127660.2:c.2070-123_2070-105dup | NP_001121132.1:n.2070-123_2070-105dup |