Linked Data
dbSNP Id:
rs1205445496
gnomAD v2:
19-50333125-T-TGCTGGAGCC
gnomAD v4:
19-49829868-T-TGCTGGAGCC
MyVariant Identifiers:
chr19:g.50333125_50333126insGCTGGAGCC (hg19)
chr19:g.49829868_49829869insGCTGGAGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49829873_49829881dup , CM000681.2:g.49829873_49829881dup | GRCh38 |
| NC_000019.9:g.50333130_50333138dup , CM000681.1:g.50333130_50333138dup | GRCh37 |
| NC_000019.8:g.55024942_55024950dup | NCBI36 |
| NG_017091.1:g.16595_16603dup , LRG_368:g.16595_16603dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.613_621dup | ENSP00000470692.3:p.Leu207_Gln208insGluProLeu | |
| ENST00000312865.10:c.613_621dup MANE Select | ENSP00000326767.5:p.Leu207_Gln208insGluProLeu | |
| ENST00000538643.5:c.181-638_181-630dup | ENSP00000437496.1:n.181-638_181-630dup | |
| ENST00000595185.5:c.613_621dup | ENSP00000470027.1:p.Leu207_Gln208insGluProLeu | |
| ENST00000612791.4:c.611_619dup | ENSP00000479851.1:p.Ala206_Ala207insGlyAlaAla | |
| ENST00000612854.4:c.450+858_450+866dup | ENSP00000482155.1:n.450+858_450+866dup | |
| ENST00000617849.4:c.158-866_158-858dup | ENSP00000484882.1:n.158-866_158-858dup | |
| ENST00000618715.4:c.158-865_158-857dup | ENSP00000480731.1:n.158-865_158-857dup | |
| ENST00000620467.4:c.613_621dup | ENSP00000482659.1:p.Leu207_Gln208insGluProLeu | |
| ENST00000622402.4:c.146-5954_146-5946dup | ENSP00000478074.1:n.146-5954_146-5946dup | |
| NM_030973.3:c.613_621dup , LRG_368t1:c.613_621dup | NP_112235.2:p.Leu207_Gln208insGluProLeu | |
| XM_011527353.1:c.613_621dup | XP_011525655.1:p.Leu207_Gln208insGluProLeu | |
| NM_001378355.1:c.613_621dup | NP_001365284.1:p.Leu207_Gln208insGluProLeu | |
| NM_030973.4:c.613_621dup MANE Select | NP_112235.2:p.Leu207_Gln208insGluProLeu |