Linked Data
dbSNP Id:
rs1485533686
gnomAD v4:
17-42687863-G-GCTT
MyVariant Identifiers:
chr17:g.40839881_40839882insCTT (hg19)
chr17:g.42687863_42687864insCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42687866_42687868dup , CM000679.2:g.42687866_42687868dup | GRCh38 |
| NC_000017.10:g.40839884_40839886dup , CM000679.1:g.40839884_40839886dup | GRCh37 |
| NC_000017.9:g.38093410_38093412dup | NCBI36 |
| NG_042091.1:g.10253_10255dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264638.9:c.1191_1193dup MANE Select | ENSP00000264638.3:p.Leu398_Leu399insLeu | |
| ENST00000264638.8:c.1191_1193dup | ENSP00000264638.3:p.Leu398_Leu399insLeu | |
| ENST00000586801.1:n.606_608dup | ||
| ENST00000591662.1:c.1191_1193dup | ENSP00000466571.1:p.Leu398_Leu399insLeu | |
| NM_003632.2:c.1191_1193dup | NP_003623.1:p.Leu398_Leu399insLeu | |
| XM_005257748.3:c.963_965dup | XP_005257805.1:p.Leu322_Leu323insLeu | |
| XM_005257748.4:c.963_965dup | XP_005257805.1:p.Leu322_Leu323insLeu | |
| XM_017025238.1:c.1191_1193dup | XP_016880727.1:p.Leu398_Leu399insLeu | |
| XM_024451011.1:c.1191_1193dup | XP_024306779.1:p.Leu398_Leu399insLeu | |
| NM_003632.3:c.1191_1193dup MANE Select | NP_003623.1:p.Leu398_Leu399insLeu |