Linked Data
dbSNP Id:
rs1567895488
gnomAD v2:
18-13884862-ATGGCCCCTTTCATGT-A
gnomAD v4:
18-13884863-ATGGCCCCTTTCATGT-A
MyVariant Identifiers:
chr18:g.13884863_13884877del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884868_13884882del , CM000680.2:g.13884868_13884882del | GRCh38 |
| NC_000018.9:g.13884867_13884881del , CM000680.1:g.13884867_13884881del | GRCh37 |
| NC_000018.8:g.13874867_13874881del | NCBI36 |
| NG_011819.1:g.35659_35673del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.641_655del MANE Select | ENSP00000333821.2:p.Asn214_Ala218del | |
| ENST00000327606.3:c.641_655del | ENSP00000333821.2:p.Asn214_Ala218del | |
| NM_000529.2:c.641_655del MANE Select | NP_000520.1:p.Asn214_Ala218del | |
| NM_001291911.1:c.641_655del | NP_001278840.1:p.Asn214_Ala218del | |
| XM_017025781.1:c.641_655del | XP_016881270.1:p.Asn214_Ala218del |