Canonical Allele Identifier: CA2674681999

Gene: ERAP1 CAST

Linked Data

• gnomAD v4: 5-96775580-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96775583_96775584dup , CM000667.2:g.96775583_96775584dup	GRCh38
NC_000005.9:g.96111287_96111288dup , CM000667.1:g.96111287_96111288dup	GRCh37
NC_000005.8:g.96137043_96137044dup	NCBI36
NG_027839.1:g.43563_43564dup
NG_029490.1:g.118547_118548dup
NG_027839.2:g.165402_165403dup
NG_029490.2:g.118547_118548dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000443439.7:c.*814_*815dup (ERAP1) MANE Select	ENSP00000406304.2:n.*814_*815dup
ENST00000296754.7:c.2818+822_2818+823dup (ERAP1)	ENSP00000296754.3:n.2818+822_2818+823dup
ENST00000443439.6:c.*814_*815dup (ERAP1)	ENSP00000406304.2:n.*814_*815dup
ENST00000510098.1:c.963-1285_963-1284dup (CAST)	ENSP00000427195.1:n.963-1285_963-1284dup
NM_001040458.1:c.*814_*815dup (ERAP1)	NP_001035548.1:n.*814_*815dup
NM_001198541.1:c.*814_*815dup (ERAP1)	NP_001185470.1:n.*814_*815dup
NM_016442.3:c.2818+822_2818+823dup (ERAP1)	NP_057526.3:n.2818+822_2818+823dup
XM_005272015.3:c.2818+822_2818+823dup (ERAP1)	XP_005272072.1:n.2818+822_2818+823dup
XM_005272016.3:c.2818+822_2818+823dup (ERAP1)	XP_005272073.1:n.2818+822_2818+823dup
XM_011543480.1:c.2818+822_2818+823dup (ERAP1)	XP_011541782.1:n.2818+822_2818+823dup
XM_011543481.1:c.2818+822_2818+823dup (ERAP1)	XP_011541783.1:n.2818+822_2818+823dup
XM_011543482.1:c.2818+822_2818+823dup (ERAP1)	XP_011541784.1:n.2818+822_2818+823dup
XM_011543483.1:c.2818+822_2818+823dup (ERAP1)	XP_011541785.1:n.2818+822_2818+823dup
XM_011543484.1:c.2818+822_2818+823dup (ERAP1)	XP_011541786.1:n.2818+822_2818+823dup
XM_011543485.1:c.2818+822_2818+823dup (ERAP1)	XP_011541787.1:n.2818+822_2818+823dup
XM_011543486.1:c.*814_*815dup (ERAP1)	XP_011541788.1:n.*814_*815dup
XM_011543487.1:c.2818+822_2818+823dup (ERAP1)	XP_011541789.1:n.2818+822_2818+823dup
NM_001040458.2:c.*814_*815dup (ERAP1)	NP_001035548.1:n.*814_*815dup
NM_001198541.2:c.*814_*815dup (ERAP1)	NP_001185470.1:n.*814_*815dup
NM_001349244.1:c.2818+822_2818+823dup (ERAP1)	NP_001336173.1:n.2818+822_2818+823dup
NM_016442.4:c.2818+822_2818+823dup (ERAP1)	NP_057526.3:n.2818+822_2818+823dup
XM_005272015.5:c.2818+822_2818+823dup (ERAP1)	XP_005272072.1:n.2818+822_2818+823dup
XM_005272016.4:c.2818+822_2818+823dup (ERAP1)	XP_005272073.1:n.2818+822_2818+823dup
XM_011543480.2:c.2818+822_2818+823dup (ERAP1)	XP_011541782.1:n.2818+822_2818+823dup
XM_011543481.2:c.2818+822_2818+823dup (ERAP1)	XP_011541783.1:n.2818+822_2818+823dup
XM_011543484.2:c.2818+822_2818+823dup (ERAP1)	XP_011541786.1:n.2818+822_2818+823dup
XM_011543485.2:c.2818+822_2818+823dup (ERAP1)	XP_011541787.1:n.2818+822_2818+823dup
XM_011543486.3:c.*814_*815dup (ERAP1)	XP_011541788.1:n.*814_*815dup
XM_017009581.1:c.2818+822_2818+823dup (ERAP1)	XP_016865070.1:n.2818+822_2818+823dup
XM_017009583.2:c.1723+822_1723+823dup (ERAP1)	XP_016865072.1:n.1723+822_1723+823dup
XM_024446113.1:c.2818+822_2818+823dup (ERAP1)	XP_024301881.1:n.2818+822_2818+823dup
XR_001742119.2:n.2956+822_2956+823dup (ERAP1)
NM_001040458.3:c.*814_*815dup (ERAP1) MANE Select	NP_001035548.1:n.*814_*815dup
NM_001198541.3:c.*814_*815dup (ERAP1)	NP_001185470.1:n.*814_*815dup
NM_001349244.2:c.2818+822_2818+823dup (ERAP1)	NP_001336173.1:n.2818+822_2818+823dup
NM_016442.5:c.2818+822_2818+823dup (ERAP1)	NP_057526.3:n.2818+822_2818+823dup