Linked Data
dbSNP Id:
rs1474052446
gnomAD v2:
5-96111207-A-AGAT
gnomAD v3:
5-96775503-A-AGAT
gnomAD v4:
5-96775503-A-AGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96775504_96775506dup , CM000667.2:g.96775504_96775506dup | GRCh38 |
| NC_000005.9:g.96111208_96111210dup , CM000667.1:g.96111208_96111210dup | GRCh37 |
| NC_000005.8:g.96136964_96136966dup | NCBI36 |
| NG_027839.1:g.43639_43641dup | |
| NG_029490.1:g.118468_118470dup | |
| NG_027839.2:g.165478_165480dup | |
| NG_029490.2:g.118468_118470dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443439.7:c.*890_*892dup (ERAP1) MANE Select | ENSP00000406304.2:n.*890_*892dup | |
| ENST00000296754.7:c.2818+898_2818+900dup (ERAP1) | ENSP00000296754.3:n.2818+898_2818+900dup | |
| ENST00000443439.6:c.*890_*892dup (ERAP1) | ENSP00000406304.2:n.*890_*892dup | |
| ENST00000510098.1:c.963-1364_963-1362dup (CAST) | ENSP00000427195.1:n.963-1364_963-1362dup | |
| NM_001040458.1:c.*890_*892dup (ERAP1) | NP_001035548.1:n.*890_*892dup | |
| NM_001198541.1:c.*890_*892dup (ERAP1) | NP_001185470.1:n.*890_*892dup | |
| NM_016442.3:c.2818+898_2818+900dup (ERAP1) | NP_057526.3:n.2818+898_2818+900dup | |
| XM_005272015.3:c.2818+898_2818+900dup (ERAP1) | XP_005272072.1:n.2818+898_2818+900dup | |
| XM_005272016.3:c.2818+898_2818+900dup (ERAP1) | XP_005272073.1:n.2818+898_2818+900dup | |
| XM_011543480.1:c.2818+898_2818+900dup (ERAP1) | XP_011541782.1:n.2818+898_2818+900dup | |
| XM_011543481.1:c.2818+898_2818+900dup (ERAP1) | XP_011541783.1:n.2818+898_2818+900dup | |
| XM_011543482.1:c.2818+898_2818+900dup (ERAP1) | XP_011541784.1:n.2818+898_2818+900dup | |
| XM_011543483.1:c.2818+898_2818+900dup (ERAP1) | XP_011541785.1:n.2818+898_2818+900dup | |
| XM_011543484.1:c.2818+898_2818+900dup (ERAP1) | XP_011541786.1:n.2818+898_2818+900dup | |
| XM_011543485.1:c.2818+898_2818+900dup (ERAP1) | XP_011541787.1:n.2818+898_2818+900dup | |
| XM_011543486.1:c.*890_*892dup (ERAP1) | XP_011541788.1:n.*890_*892dup | |
| XM_011543487.1:c.2818+898_2818+900dup (ERAP1) | XP_011541789.1:n.2818+898_2818+900dup | |
| NM_001040458.2:c.*890_*892dup (ERAP1) | NP_001035548.1:n.*890_*892dup | |
| NM_001198541.2:c.*890_*892dup (ERAP1) | NP_001185470.1:n.*890_*892dup | |
| NM_001349244.1:c.2818+898_2818+900dup (ERAP1) | NP_001336173.1:n.2818+898_2818+900dup | |
| NM_016442.4:c.2818+898_2818+900dup (ERAP1) | NP_057526.3:n.2818+898_2818+900dup | |
| XM_005272015.5:c.2818+898_2818+900dup (ERAP1) | XP_005272072.1:n.2818+898_2818+900dup | |
| XM_005272016.4:c.2818+898_2818+900dup (ERAP1) | XP_005272073.1:n.2818+898_2818+900dup | |
| XM_011543480.2:c.2818+898_2818+900dup (ERAP1) | XP_011541782.1:n.2818+898_2818+900dup | |
| XM_011543481.2:c.2818+898_2818+900dup (ERAP1) | XP_011541783.1:n.2818+898_2818+900dup | |
| XM_011543484.2:c.2818+898_2818+900dup (ERAP1) | XP_011541786.1:n.2818+898_2818+900dup | |
| XM_011543485.2:c.2818+898_2818+900dup (ERAP1) | XP_011541787.1:n.2818+898_2818+900dup | |
| XM_011543486.3:c.*890_*892dup (ERAP1) | XP_011541788.1:n.*890_*892dup | |
| XM_017009581.1:c.2818+898_2818+900dup (ERAP1) | XP_016865070.1:n.2818+898_2818+900dup | |
| XM_017009583.2:c.1723+898_1723+900dup (ERAP1) | XP_016865072.1:n.1723+898_1723+900dup | |
| XM_024446113.1:c.2818+898_2818+900dup (ERAP1) | XP_024301881.1:n.2818+898_2818+900dup | |
| XR_001742119.2:n.2956+898_2956+900dup (ERAP1) | ||
| NM_001040458.3:c.*890_*892dup (ERAP1) MANE Select | NP_001035548.1:n.*890_*892dup | |
| NM_001198541.3:c.*890_*892dup (ERAP1) | NP_001185470.1:n.*890_*892dup | |
| NM_001349244.2:c.2818+898_2818+900dup (ERAP1) | NP_001336173.1:n.2818+898_2818+900dup | |
| NM_016442.5:c.2818+898_2818+900dup (ERAP1) | NP_057526.3:n.2818+898_2818+900dup |