Linked Data
dbSNP Id:
rs1486257792
gnomAD v2:
17-70120137-A-ACACGCTGAC
gnomAD v4:
17-72123996-A-ACACGCTGAC
MyVariant Identifiers:
chr17:g.70120137_70120138insCACGCTGAC (hg19)
chr17:g.72123996_72123997insCACGCTGAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124005_72124013dup , CM000679.2:g.72124005_72124013dup | GRCh38 |
| NC_000017.10:g.70120146_70120154dup , CM000679.1:g.70120146_70120154dup | GRCh37 |
| NC_000017.9:g.67631741_67631749dup | NCBI36 |
| NG_012490.1:g.7986_7994dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1148_1156dup MANE Select | ENSP00000245479.2:p.Leu385_Ser386insThrThrLeu | |
| ENST00000245479.2:c.1148_1156dup | ENSP00000245479.2:p.Leu385_Ser386insThrThrLeu | |
| NM_000346.3:c.1148_1156dup | NP_000337.1:p.Leu385_Ser386insThrThrLeu | |
| NM_000346.4:c.1148_1156dup MANE Select | NP_000337.1:p.Leu385_Ser386insThrThrLeu |