Linked Data
dbSNP Id:
rs138961474
gnomAD v2:
5-96111092-CTAGT-C
gnomAD v3:
5-96775388-CTAGT-C
gnomAD v4:
5-96775388-CTAGT-C
COSMIC:
COSN20101559
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96775396_96775399del , CM000667.2:g.96775396_96775399del | GRCh38 |
| NC_000005.9:g.96111100_96111103del , CM000667.1:g.96111100_96111103del | GRCh37 |
| NC_000005.8:g.96136856_96136859del | NCBI36 |
| NG_027839.1:g.43753_43756del | |
| NG_029490.1:g.118360_118363del | |
| NG_027839.2:g.165592_165595del | |
| NG_029490.2:g.118360_118363del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443439.7:c.*1004_*1007del (ERAP1) MANE Select | ENSP00000406304.2:n.*1004_*1007del | |
| ENST00000296754.7:c.2818+1012_2818+1015del (ERAP1) | ENSP00000296754.3:n.2818+1012_2818+1015del | |
| ENST00000443439.6:c.*1004_*1007del (ERAP1) | ENSP00000406304.2:n.*1004_*1007del | |
| ENST00000510098.1:c.963-1472_963-1469del (CAST) | ENSP00000427195.1:n.963-1472_963-1469del | |
| NM_001040458.1:c.*1004_*1007del (ERAP1) | NP_001035548.1:n.*1004_*1007del | |
| NM_001198541.1:c.*1004_*1007del (ERAP1) | NP_001185470.1:n.*1004_*1007del | |
| NM_016442.3:c.2818+1012_2818+1015del (ERAP1) | NP_057526.3:n.2818+1012_2818+1015del | |
| XM_005272015.3:c.2818+1012_2818+1015del (ERAP1) | XP_005272072.1:n.2818+1012_2818+1015del | |
| XM_005272016.3:c.2818+1012_2818+1015del (ERAP1) | XP_005272073.1:n.2818+1012_2818+1015del | |
| XM_011543480.1:c.2818+1012_2818+1015del (ERAP1) | XP_011541782.1:n.2818+1012_2818+1015del | |
| XM_011543481.1:c.2818+1012_2818+1015del (ERAP1) | XP_011541783.1:n.2818+1012_2818+1015del | |
| XM_011543482.1:c.2818+1012_2818+1015del (ERAP1) | XP_011541784.1:n.2818+1012_2818+1015del | |
| XM_011543483.1:c.2818+1012_2818+1015del (ERAP1) | XP_011541785.1:n.2818+1012_2818+1015del | |
| XM_011543484.1:c.2818+1012_2818+1015del (ERAP1) | XP_011541786.1:n.2818+1012_2818+1015del | |
| XM_011543485.1:c.2818+1012_2818+1015del (ERAP1) | XP_011541787.1:n.2818+1012_2818+1015del | |
| XM_011543486.1:c.*1004_*1007del (ERAP1) | XP_011541788.1:n.*1004_*1007del | |
| XM_011543487.1:c.2818+1012_2818+1015del (ERAP1) | XP_011541789.1:n.2818+1012_2818+1015del | |
| NM_001040458.2:c.*1004_*1007del (ERAP1) | NP_001035548.1:n.*1004_*1007del | |
| NM_001198541.2:c.*1004_*1007del (ERAP1) | NP_001185470.1:n.*1004_*1007del | |
| NM_001349244.1:c.2818+1012_2818+1015del (ERAP1) | NP_001336173.1:n.2818+1012_2818+1015del | |
| NM_016442.4:c.2818+1012_2818+1015del (ERAP1) | NP_057526.3:n.2818+1012_2818+1015del | |
| XM_005272015.5:c.2818+1012_2818+1015del (ERAP1) | XP_005272072.1:n.2818+1012_2818+1015del | |
| XM_005272016.4:c.2818+1012_2818+1015del (ERAP1) | XP_005272073.1:n.2818+1012_2818+1015del | |
| XM_011543480.2:c.2818+1012_2818+1015del (ERAP1) | XP_011541782.1:n.2818+1012_2818+1015del | |
| XM_011543481.2:c.2818+1012_2818+1015del (ERAP1) | XP_011541783.1:n.2818+1012_2818+1015del | |
| XM_011543484.2:c.2818+1012_2818+1015del (ERAP1) | XP_011541786.1:n.2818+1012_2818+1015del | |
| XM_011543485.2:c.2818+1012_2818+1015del (ERAP1) | XP_011541787.1:n.2818+1012_2818+1015del | |
| XM_011543486.3:c.*1004_*1007del (ERAP1) | XP_011541788.1:n.*1004_*1007del | |
| XM_017009581.1:c.2818+1012_2818+1015del (ERAP1) | XP_016865070.1:n.2818+1012_2818+1015del | |
| XM_017009583.2:c.1723+1012_1723+1015del (ERAP1) | XP_016865072.1:n.1723+1012_1723+1015del | |
| XM_024446113.1:c.2818+1012_2818+1015del (ERAP1) | XP_024301881.1:n.2818+1012_2818+1015del | |
| XR_001742119.2:n.2956+1012_2956+1015del (ERAP1) | ||
| NM_001040458.3:c.*1004_*1007del (ERAP1) MANE Select | NP_001035548.1:n.*1004_*1007del | |
| NM_001198541.3:c.*1004_*1007del (ERAP1) | NP_001185470.1:n.*1004_*1007del | |
| NM_001349244.2:c.2818+1012_2818+1015del (ERAP1) | NP_001336173.1:n.2818+1012_2818+1015del | |
| NM_016442.5:c.2818+1012_2818+1015del (ERAP1) | NP_057526.3:n.2818+1012_2818+1015del |