Canonical Allele Identifier: CA1565579535

Gene: ERAP1

Linked Data

• dbSNP Id: rs1775462856
• gnomAD v3: 5-96783152-CCGCAGCATTCGCTCTG-C
• gnomAD v4: 5-96783152-CCGCAGCATTCGCTCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96783153_96783168del , CM000667.2:g.96783153_96783168del	GRCh38
NC_000005.9:g.96118857_96118872del , CM000667.1:g.96118857_96118872del	GRCh37
NC_000005.8:g.96144613_96144628del	NCBI36
NG_027839.1:g.35977_35992del
NG_027839.2:g.157816_157831del

Transcript Alleles

HGVS	Amino-acid change
ENST00000443439.7:c.2168_2183del MANE Select	ENSP00000406304.2:p.Ser723Ter
ENST00000296754.7:c.2168_2183del	ENSP00000296754.3:p.Ser723Ter
ENST00000443439.6:c.2168_2183del	ENSP00000406304.2:p.Ser723Ter
ENST00000514604.5:n.592_607del
NM_001040458.1:c.2168_2183del	NP_001035548.1:p.Ser723Ter
NM_001198541.1:c.2168_2183del	NP_001185470.1:p.Ser723Ter
NM_016442.3:c.2168_2183del	NP_057526.3:p.Ser723Ter
XM_005272015.3:c.2168_2183del	XP_005272072.1:p.Ser723Ter
XM_005272016.3:c.2168_2183del	XP_005272073.1:p.Ser723Ter
XM_011543480.1:c.2168_2183del	XP_011541782.1:p.Ser723Ter
XM_011543481.1:c.2168_2183del	XP_011541783.1:p.Ser723Ter
XM_011543482.1:c.2168_2183del	XP_011541784.1:p.Ser723Ter
XM_011543483.1:c.2168_2183del	XP_011541785.1:p.Ser723Ter
XM_011543484.1:c.2168_2183del	XP_011541786.1:p.Ser723Ter
XM_011543485.1:c.2168_2183del	XP_011541787.1:p.Ser723Ter
XM_011543486.1:c.2168_2183del	XP_011541788.1:p.Ser723Ter
XM_011543487.1:c.2168_2183del	XP_011541789.1:p.Ser723Ter
XR_427744.2:n.89+1278_89+1293del
XR_948592.1:n.89+1278_89+1293del
XR_948593.1:n.398-1853_398-1838del
XR_948594.1:n.71+1260_71+1275del
XR_948595.1:n.398-1853_398-1838del
NM_001040458.2:c.2168_2183del	NP_001035548.1:p.Ser723Ter
NM_001198541.2:c.2168_2183del	NP_001185470.1:p.Ser723Ter
NM_001349244.1:c.2168_2183del	NP_001336173.1:p.Ser723Ter
NM_016442.4:c.2168_2183del	NP_057526.3:p.Ser723Ter
XM_005272015.5:c.2168_2183del	XP_005272072.1:p.Ser723Ter
XM_005272016.4:c.2168_2183del	XP_005272073.1:p.Ser723Ter
XM_011543480.2:c.2168_2183del	XP_011541782.1:p.Ser723Ter
XM_011543481.2:c.2168_2183del	XP_011541783.1:p.Ser723Ter
XM_011543484.2:c.2168_2183del	XP_011541786.1:p.Ser723Ter
XM_011543485.2:c.2168_2183del	XP_011541787.1:p.Ser723Ter
XM_011543486.3:c.2168_2183del	XP_011541788.1:p.Ser723Ter
XM_017009581.1:c.2168_2183del	XP_016865070.1:p.Ser723Ter
XM_017009583.2:c.1073_1088del	XP_016865072.1:p.Ser358Ter
XM_024446113.1:c.2168_2183del	XP_024301881.1:p.Ser723Ter
XR_001742119.2:n.2306_2321del
XR_001742445.1:n.2962+1278_2962+1293del
XR_001742446.1:n.725+1278_725+1293del
NM_001040458.3:c.2168_2183del MANE Select	NP_001035548.1:p.Ser723Ter
NM_001198541.3:c.2168_2183del	NP_001185470.1:p.Ser723Ter
NM_001349244.2:c.2168_2183del	NP_001336173.1:p.Ser723Ter
NM_016442.5:c.2168_2183del	NP_057526.3:p.Ser723Ter