Linked Data
ClinVar Variation Id:
101079
dbSNP Id:
rs879255572
gnomAD v2:
16-18804605-AGTTT-A
gnomAD v4:
16-18793283-AGTTT-A
PubMed:
PMID:24482476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.18793288_18793291del , CM000678.2:g.18793288_18793291del | GRCh38 |
| NC_000016.9:g.18804610_18804613del , CM000678.1:g.18804610_18804613del | GRCh37 |
| NC_000016.8:g.18712111_18712114del | NCBI36 |
| NG_042860.1:g.13392_13395del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304414.12:c.577_580del MANE Select | ENSP00000306788.7:p.Lys193PhefsTer? | |
| ENST00000304414.11:c.577_580del | ENSP00000306788.7:p.Lys193PhefsTer? | |
| ENST00000546206.6:c.490_493del | ENSP00000440048.2:p.Lys164PhefsTer? | |
| ENST00000562819.5:c.232_235del | ENSP00000457372.1:p.Lys78PhefsTer? | |
| ENST00000563861.5:c.*159_*162del | ENSP00000456596.1:n.*159_*162del | |
| ENST00000567078.2:c.493+1312_493+1315del | ENSP00000454746.2:n.493+1312_493+1315del | |
| NM_001313858.1:c.490_493del | NP_001300787.1:p.Lys164PhefsTer? | |
| NM_015161.1:c.577_580del | NP_055976.1:p.Lys193PhefsTer? | |
| NM_015161.2:c.577_580del | NP_055976.1:p.Lys193PhefsTer? | |
| NM_015161.3:c.577_580del MANE Select | NP_055976.1:p.Lys193PhefsTer? |