Linked Data
ClinVar Variation Id:
419342
ClinVar RCV Id:
RCV001261562
dbSNP Id:
rs312262693
ExAC:
4:80905984 CA / C
gnomAD v2:
4-80905984-CA-C
gnomAD v3:
4-79984830-CA-C
gnomAD v4:
4-79984830-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.79984831del , CM000666.2:g.79984831del | GRCh38 |
| NC_000004.11:g.80905985del , CM000666.1:g.80905985del | GRCh37 |
| NC_000004.10:g.81125009del | NCBI36 |
| NG_015987.1:g.93493del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403729.7:c.1074del MANE Select | ENSP00000385575.2:p.Ala359HisfsTer? | |
| ENST00000679571.1:c.843del | ENSP00000506307.1:p.Ala282HisfsTer? | |
| ENST00000680913.1:c.1074del | ENSP00000505640.1:p.Ala359HisfsTer? | |
| ENST00000681115.1:c.1074del | ENSP00000505618.1:p.Ala359HisfsTer? | |
| ENST00000681710.1:c.843del | ENSP00000505865.1:p.Ala282HisfsTer? | |
| ENST00000307333.7:c.1074del | ENSP00000306185.6:p.Ala359HisfsTer? | |
| ENST00000346652.10:c.765del | ENSP00000314883.6:p.Ala256HisfsTer? | |
| ENST00000403729.6:c.1074del | ENSP00000385575.2:p.Ala359HisfsTer? | |
| ENST00000404191.5:c.843del | ENSP00000384028.1:p.Ala282HisfsTer? | |
| ENST00000449651.5:c.*224del | ENSP00000413700.1:n.*224del | |
| NM_001145794.1:c.1074del | NP_001139266.1:p.Ala359HisfsTer? | |
| NM_001286780.1:c.843del | NP_001273709.1:p.Ala282HisfsTer? | |
| NM_001286781.1:c.843del | NP_001273710.1:p.Ala282HisfsTer? | |
| NM_058172.5:c.1074del | NP_477520.2:p.Ala359HisfsTer? | |
| XM_011531587.1:c.843del | XP_011529889.1:p.Ala282HisfsTer? | |
| XM_011531587.3:c.843del | XP_011529889.1:p.Ala282HisfsTer? | |
| NM_058172.6:c.1074del MANE Select | NP_477520.2:p.Ala359HisfsTer? | |
| NM_001286780.2:c.843del | NP_001273709.1:p.Ala282HisfsTer? | |
| NM_001286781.2:c.843del | NP_001273710.1:p.Ala282HisfsTer? | |
| NM_001145794.2:c.1074del | NP_001139266.1:p.Ala359HisfsTer? |