Linked Data
dbSNP Id:
rs1326861346
gnomAD v2:
17-4805234-T-TAAGCGA
MyVariant Identifiers:
chr17:g.4805234_4805235insAAGCGA (hg19)
chr17:g.4901939_4901940insAAGCGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4901941_4901946dup , CM000679.2:g.4901941_4901946dup | GRCh38 |
| NC_000017.10:g.4805236_4805241dup , CM000679.1:g.4805236_4805241dup | GRCh37 |
| NC_000017.9:g.4746015_4746020dup | NCBI36 |
| NG_008029.2:g.6131_6136dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*1408_*1413dup (C17orf107) MANE Select | ENSP00000370770.3:n.*1408_*1413dup | |
| ENST00000649488.2:c.487_492dup (CHRNE) MANE Select | ENSP00000497829.1:p.Leu164_Ile165insSerLeu | |
| ENST00000649830.1:c.-447_-442dup (CHRNE) | ENSP00000496907.1:n.-447_-442dup | |
| ENST00000293780.4:c.487_492dup (CHRNE) | ENSP00000293780.4:p.Leu164_Ile165insSerLeu | |
| ENST00000381365.3:c.*1408_*1413dup (C17orf107) | ENSP00000370770.3:n.*1408_*1413dup | |
| ENST00000575637.1:n.274+34_274+39dup (CHRNE) | ||
| NM_000080.3:c.487_492dup (CHRNE) | NP_000071.1:p.Leu164_Ile165insSerLeu | |
| NM_001145536.1:c.*1408_*1413dup (C17orf107) | NP_001139008.1:n.*1408_*1413dup | |
| XM_011523612.1:c.546+1435_546+1440dup (C17orf107) | XP_011521914.1:n.546+1435_546+1440dup | |
| XM_011523631.1:c.487_492dup (CHRNE) | XP_011521933.1:p.Leu164_Ile165insSerLeu | |
| NM_000080.4:c.487_492dup (CHRNE) MANE Select | NP_000071.1:p.Leu164_Ile165insSerLeu | |
| XM_017024115.1:c.451_456dup (CHRNE) | XP_016879604.1:p.Leu152_Ile153insSerLeu | |
| XR_001752421.1:n.1332_1337dup (CHRNE) | ||
| NM_001145536.2:c.*1408_*1413dup (C17orf107) MANE Select | NP_001139008.1:n.*1408_*1413dup |