Linked Data
dbSNP Id:
rs1567744993
gnomAD v2:
17-54671977-G-GGGCAAGAAGCAGCGCCTA
gnomAD v4:
17-56594616-G-GGGCAAGAAGCAGCGCCTA
MyVariant Identifiers:
chr17:g.54671977_54671978insGGCAAGAAGCAGCGCCTA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594617_56594634dup , CM000679.2:g.56594617_56594634dup | GRCh38 |
| NC_000017.10:g.54671978_54671995dup , CM000679.1:g.54671978_54671995dup | GRCh37 |
| NC_000017.9:g.52026977_52026994dup | NCBI36 |
| NG_011958.1:g.5919_5936dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.394_411dup MANE Select | ENSP00000328181.4:p.Leu137_Ser138insGlyLysLysGlnArgLeu | |
| ENST00000332822.4:c.394_411dup | ENSP00000328181.4:p.Leu137_Ser138insGlyLysLysGlnArgLeu | |
| NM_005450.4:c.394_411dup | NP_005441.1:p.Leu137_Ser138insGlyLysLysGlnArgLeu | |
| NM_005450.6:c.394_411dup MANE Select | NP_005441.1:p.Leu137_Ser138insGlyLysLysGlnArgLeu |