Linked Data
dbSNP Id:
rs969772431
gnomAD v3:
5-96775781-G-GAATC
gnomAD v4:
5-96775781-G-GAATC
MyVariant Identifiers:
chr5:g.96111485_96111486insAATC (hg19)
chr5:g.96775781_96775782insAATC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96775783_96775786dup , CM000667.2:g.96775783_96775786dup | GRCh38 |
| NC_000005.9:g.96111487_96111490dup , CM000667.1:g.96111487_96111490dup | GRCh37 |
| NC_000005.8:g.96137243_96137246dup | NCBI36 |
| NG_027839.1:g.43360_43363dup | |
| NG_029490.1:g.118747_118750dup | |
| NG_027839.2:g.165199_165202dup | |
| NG_029490.2:g.118747_118750dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443439.7:c.*611_*614dup (ERAP1) MANE Select | ENSP00000406304.2:n.*611_*614dup | |
| ENST00000296754.7:c.2818+619_2818+622dup (ERAP1) | ENSP00000296754.3:n.2818+619_2818+622dup | |
| ENST00000443439.6:c.*611_*614dup (ERAP1) | ENSP00000406304.2:n.*611_*614dup | |
| ENST00000510098.1:c.963-1085_963-1082dup (CAST) | ENSP00000427195.1:n.963-1085_963-1082dup | |
| NM_001040458.1:c.*611_*614dup (ERAP1) | NP_001035548.1:n.*611_*614dup | |
| NM_001198541.1:c.*611_*614dup (ERAP1) | NP_001185470.1:n.*611_*614dup | |
| NM_016442.3:c.2818+619_2818+622dup (ERAP1) | NP_057526.3:n.2818+619_2818+622dup | |
| XM_005272015.3:c.2818+619_2818+622dup (ERAP1) | XP_005272072.1:n.2818+619_2818+622dup | |
| XM_005272016.3:c.2818+619_2818+622dup (ERAP1) | XP_005272073.1:n.2818+619_2818+622dup | |
| XM_011543480.1:c.2818+619_2818+622dup (ERAP1) | XP_011541782.1:n.2818+619_2818+622dup | |
| XM_011543481.1:c.2818+619_2818+622dup (ERAP1) | XP_011541783.1:n.2818+619_2818+622dup | |
| XM_011543482.1:c.2818+619_2818+622dup (ERAP1) | XP_011541784.1:n.2818+619_2818+622dup | |
| XM_011543483.1:c.2818+619_2818+622dup (ERAP1) | XP_011541785.1:n.2818+619_2818+622dup | |
| XM_011543484.1:c.2818+619_2818+622dup (ERAP1) | XP_011541786.1:n.2818+619_2818+622dup | |
| XM_011543485.1:c.2818+619_2818+622dup (ERAP1) | XP_011541787.1:n.2818+619_2818+622dup | |
| XM_011543486.1:c.*611_*614dup (ERAP1) | XP_011541788.1:n.*611_*614dup | |
| XM_011543487.1:c.2818+619_2818+622dup (ERAP1) | XP_011541789.1:n.2818+619_2818+622dup | |
| NM_001040458.2:c.*611_*614dup (ERAP1) | NP_001035548.1:n.*611_*614dup | |
| NM_001198541.2:c.*611_*614dup (ERAP1) | NP_001185470.1:n.*611_*614dup | |
| NM_001349244.1:c.2818+619_2818+622dup (ERAP1) | NP_001336173.1:n.2818+619_2818+622dup | |
| NM_016442.4:c.2818+619_2818+622dup (ERAP1) | NP_057526.3:n.2818+619_2818+622dup | |
| XM_005272015.5:c.2818+619_2818+622dup (ERAP1) | XP_005272072.1:n.2818+619_2818+622dup | |
| XM_005272016.4:c.2818+619_2818+622dup (ERAP1) | XP_005272073.1:n.2818+619_2818+622dup | |
| XM_011543480.2:c.2818+619_2818+622dup (ERAP1) | XP_011541782.1:n.2818+619_2818+622dup | |
| XM_011543481.2:c.2818+619_2818+622dup (ERAP1) | XP_011541783.1:n.2818+619_2818+622dup | |
| XM_011543484.2:c.2818+619_2818+622dup (ERAP1) | XP_011541786.1:n.2818+619_2818+622dup | |
| XM_011543485.2:c.2818+619_2818+622dup (ERAP1) | XP_011541787.1:n.2818+619_2818+622dup | |
| XM_011543486.3:c.*611_*614dup (ERAP1) | XP_011541788.1:n.*611_*614dup | |
| XM_017009581.1:c.2818+619_2818+622dup (ERAP1) | XP_016865070.1:n.2818+619_2818+622dup | |
| XM_017009583.2:c.1723+619_1723+622dup (ERAP1) | XP_016865072.1:n.1723+619_1723+622dup | |
| XM_024446113.1:c.2818+619_2818+622dup (ERAP1) | XP_024301881.1:n.2818+619_2818+622dup | |
| XR_001742119.2:n.2956+619_2956+622dup (ERAP1) | ||
| NM_001040458.3:c.*611_*614dup (ERAP1) MANE Select | NP_001035548.1:n.*611_*614dup | |
| NM_001198541.3:c.*611_*614dup (ERAP1) | NP_001185470.1:n.*611_*614dup | |
| NM_001349244.2:c.2818+619_2818+622dup (ERAP1) | NP_001336173.1:n.2818+619_2818+622dup | |
| NM_016442.5:c.2818+619_2818+622dup (ERAP1) | NP_057526.3:n.2818+619_2818+622dup |