Linked Data
ClinVar Variation Id:
18350
ClinVar RCV Id:
RCV000020018
dbSNP Id:
rs879253723
PubMed:
PMID:11030414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899471del , CM000679.2:g.4899471del | GRCh38 |
| NC_000017.10:g.4802766del , CM000679.1:g.4802766del | GRCh37 |
| NC_000017.9:g.4743545del | NCBI36 |
| NG_008029.2:g.8606del | |
| NG_028005.1:g.71132del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649488.2:c.1030del (CHRNE) MANE Select | ENSP00000497829.1:p.His344ThrfsTer? | |
| ENST00000649830.1:c.97del (CHRNE) | ENSP00000496907.1:p.His33ThrfsTer? | |
| ENST00000652550.1:n.760del (CHRNE) | ||
| ENST00000293780.4:c.1030del (CHRNE) | ENSP00000293780.4:p.His344ThrfsTer? | |
| ENST00000521575.1:c.-292del (C17orf107) | ENSP00000429241.1:n.-292del | |
| ENST00000572438.1:n.716del (CHRNE) | ||
| NM_000080.3:c.1030del (CHRNE) | NP_000071.1:p.His344ThrfsTer? | |
| XM_011523612.1:c.-292del (C17orf107) | XP_011521914.1:n.-292del | |
| NM_000080.4:c.1030del (CHRNE) MANE Select | NP_000071.1:p.His344ThrfsTer? | |
| XM_017024115.1:c.994del (CHRNE) | XP_016879604.1:p.His332ThrfsTer? | |
| XR_001752421.1:n.1760del (CHRNE) |