Linked Data
dbSNP Id:
rs1373117502
MyVariant Identifiers:
chr19:g.1391387_1391388insTTCCGCCC (hg19)
chr19:g.1391388_1391389insTTCCGCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1391389_1391396dup , CM000681.2:g.1391389_1391396dup | GRCh38 |
| NC_000019.9:g.1391388_1391395dup , CM000681.1:g.1391388_1391395dup | GRCh37 |
| NC_000019.8:g.1342388_1342395dup | NCBI36 |
| NG_008283.1:g.12506_12513dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233627.14:c.455+224_455+231dup MANE Select | ENSP00000233627.9:n.455+224_455+231dup | |
| ENST00000233627.13:c.455+224_455+231dup | ENSP00000233627.9:n.455+224_455+231dup | |
| ENST00000313408.11:c.455+224_455+231dup | ENSP00000364262.5:n.455+224_455+231dup | |
| ENST00000414651.3:c.545+224_545+231dup | ENSP00000406630.2:n.545+224_545+231dup | |
| ENST00000436115.6:n.2410+224_2410+231dup | ||
| ENST00000534853.5:c.*249+224_*249+231dup | ENSP00000442822.1:n.*249+224_*249+231dup | |
| ENST00000535382.1:n.707+224_707+231dup | ||
| ENST00000538523.5:n.511+224_511+231dup | ||
| ENST00000538662.5:n.550+224_550+231dup | ||
| ENST00000538929.5:n.545+224_545+231dup | ||
| ENST00000539480.5:c.455+224_455+231dup | ENSP00000443273.1:n.455+224_455+231dup | |
| ENST00000540530.5:n.446+224_446+231dup | ||
| ENST00000543289.5:n.1013+224_1013+231dup | ||
| ENST00000545446.5:n.746+224_746+231dup | ||
| ENST00000546172.7:c.*451+224_*451+231dup | ENSP00000467094.1:n.*451+224_*451+231dup | |
| ENST00000546283.5:c.455+224_455+231dup | ENSP00000440348.1:n.455+224_455+231dup | |
| ENST00000618074.4:c.462+224_462+231dup | ENSP00000477895.1:n.462+224_462+231dup | |
| ENST00000620479.4:c.459+224_459+231dup | ENSP00000480984.1:n.459+224_459+231dup | |
| ENST00000622587.4:n.519+224_519+231dup | ||
| NM_024407.4:c.455+224_455+231dup | NP_077718.3:n.455+224_455+231dup | |
| XM_005259556.3:c.455+224_455+231dup | XP_005259613.2:n.455+224_455+231dup | |
| NM_001363602.1:c.455+224_455+231dup | NP_001350531.1:n.455+224_455+231dup | |
| XM_024451499.1:c.476+224_476+231dup | XP_024307267.1:n.476+224_476+231dup | |
| NM_024407.5:c.455+224_455+231dup MANE Select | NP_077718.3:n.455+224_455+231dup | |
| NM_001363602.2:c.455+224_455+231dup | NP_001350531.1:n.455+224_455+231dup |