Linked Data
dbSNP Id:
rs1483333185
gnomAD v2:
14-51410855-G-GCCCGCCGT
gnomAD v3:
14-50944137-G-GCCCGCCGT
gnomAD v4:
14-50944137-G-GCCCGCCGT
MyVariant Identifiers:
chr14:g.51410855_51410856insCCCGCCGT (hg19)
chr14:g.50944137_50944138insCCCGCCGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50944144_50944151dup , CM000676.2:g.50944144_50944151dup | GRCh38 |
| NC_000014.8:g.51410862_51410869dup , CM000676.1:g.51410862_51410869dup | GRCh37 |
| NC_000014.7:g.50480612_50480619dup | NCBI36 |
| NG_012796.1:g.5386_5393dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.243+16_243+23dup MANE Select | ENSP00000216392.7:n.243+16_243+23dup | |
| ENST00000216392.7:c.243+16_243+23dup | ENSP00000216392.7:n.243+16_243+23dup | |
| ENST00000530336.2:n.310+16_310+23dup | ||
| ENST00000532462.5:c.243+16_243+23dup | ENSP00000431657.1:n.243+16_243+23dup | |
| ENST00000544180.6:c.243+16_243+23dup | ENSP00000443787.1:n.243+16_243+23dup | |
| NM_001163940.1:c.243+16_243+23dup | NP_001157412.1:n.243+16_243+23dup | |
| NM_002863.4:c.243+16_243+23dup | NP_002854.3:n.243+16_243+23dup | |
| NM_002863.5:c.243+16_243+23dup MANE Select | NP_002854.3:n.243+16_243+23dup | |
| NM_001163940.2:c.243+16_243+23dup | NP_001157412.1:n.243+16_243+23dup |