Canonical Allele Identifier: CA2687599720

Gene: EYA1

Linked Data

• gnomAD v4: 8-71216920-AAACTATAAAAGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216922_71216934del , CM000670.2:g.71216922_71216934del	GRCh38
NC_000008.10:g.72129157_72129169del , CM000670.1:g.72129157_72129169del	GRCh37
NC_000008.9:g.72291711_72291723del	NCBI36
NG_011735.2:g.150300_150312del
NG_011735.3:g.336198_336210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1199+32_1199+44del MANE Select	ENSP00000342626.3:n.1199+32_1199+44del
ENST00000388741.7:c.1097+32_1097+44del	ENSP00000373393.2:n.1097+32_1097+44del
ENST00000419131.6:c.1094+32_1094+44del	ENSP00000410176.1:n.1094+32_1094+44del
ENST00000465115.6:c.*478+32_*478+44del	ENSP00000428391.1:n.*478+32_*478+44del
ENST00000493349.2:c.589+32_589+44del
ENST00000496494.6:n.1662+32_1662+44del
ENST00000642391.1:c.*876+32_*876+44del	ENSP00000496700.1:n.*876+32_*876+44del
ENST00000643681.1:c.1286+32_1286+44del	ENSP00000495390.1:n.1286+32_1286+44del
ENST00000644229.1:c.1181+32_1181+44del	ENSP00000494568.1:n.1181+32_1181+44del
ENST00000644424.1:n.269+32_269+44del
ENST00000644712.1:c.1178+32_1178+44del	ENSP00000496188.1:n.1178+32_1178+44del
ENST00000645793.1:c.1199+32_1199+44del	ENSP00000496255.1:n.1199+32_1199+44del
ENST00000647540.1:c.1199+32_1199+44del	ENSP00000494438.1:n.1199+32_1199+44del
ENST00000303824.11:c.1181+32_1181+44del	ENSP00000303221.7:n.1181+32_1181+44del
ENST00000340726.7:c.1199+32_1199+44del	ENSP00000342626.3:n.1199+32_1199+44del
ENST00000388740.4:c.1100+32_1100+44del	ENSP00000373392.3:n.1100+32_1100+44del
ENST00000388741.6:c.1097+32_1097+44del	ENSP00000373393.2:n.1097+32_1097+44del
ENST00000388742.8:c.1199+32_1199+44del	ENSP00000373394.4:n.1199+32_1199+44del
ENST00000388743.6:c.1196+32_1196+44del	ENSP00000373395.2:n.1196+32_1196+44del
ENST00000419131.5:c.1094+32_1094+44del	ENSP00000410176.1:n.1094+32_1094+44del
ENST00000465115.5:c.*478+32_*478+44del	ENSP00000428391.1:n.*478+32_*478+44del
ENST00000493349.1:c.*144+32_*144+44del	ENSP00000428517.1:n.*144+32_*144+44del
ENST00000496494.5:n.1694+32_1694+44del
NM_000503.5:c.1199+32_1199+44del	NP_000494.2:n.1199+32_1199+44del
NM_001288574.1:c.1181+32_1181+44del	NP_001275503.1:n.1181+32_1181+44del
NM_001288575.1:c.833+32_833+44del	NP_001275504.1:n.833+32_833+44del
NM_172058.3:c.1199+32_1199+44del	NP_742055.1:n.1199+32_1199+44del
NM_172059.3:c.1094+32_1094+44del	NP_742056.1:n.1094+32_1094+44del
NM_172060.3:c.1100+32_1100+44del	NP_742057.1:n.1100+32_1100+44del
XM_011517481.1:c.1271+32_1271+44del	XP_011515783.1:n.1271+32_1271+44del
XM_011517482.1:c.1286+32_1286+44del	XP_011515784.1:n.1286+32_1286+44del
XM_011517483.1:c.1196+32_1196+44del	XP_011515785.1:n.1196+32_1196+44del
XM_011517484.1:c.1184+32_1184+44del	XP_011515786.1:n.1184+32_1184+44del
XM_011517485.1:c.1199+32_1199+44del	XP_011515787.1:n.1199+32_1199+44del
XM_011517486.1:c.1199+32_1199+44del	XP_011515788.1:n.1199+32_1199+44del
XM_011517487.1:c.1199+32_1199+44del	XP_011515789.1:n.1199+32_1199+44del
XM_011517488.1:c.1196+32_1196+44del	XP_011515790.1:n.1196+32_1196+44del
XM_011517489.1:c.1136+32_1136+44del	XP_011515791.1:n.1136+32_1136+44del
XM_011517490.1:c.1100+32_1100+44del	XP_011515792.1:n.1100+32_1100+44del
XM_011517491.1:c.1100+32_1100+44del	XP_011515793.1:n.1100+32_1100+44del
XM_011517492.1:c.848+32_848+44del	XP_011515794.1:n.848+32_848+44del
NM_172059.4:c.1181+32_1181+44del	NP_742056.2:n.1181+32_1181+44del
XM_011517483.2:c.1196+32_1196+44del	XP_011515785.1:n.1196+32_1196+44del
XM_011517484.3:c.1271+32_1271+44del	XP_011515786.2:n.1271+32_1271+44del
XM_017013201.1:c.1286+32_1286+44del	XP_016868690.1:n.1286+32_1286+44del
XM_017013202.1:c.1286+32_1286+44del	XP_016868691.1:n.1286+32_1286+44del
XM_017013203.2:c.1283+32_1283+44del	XP_016868692.1:n.1283+32_1283+44del
XM_017013204.2:c.1268+32_1268+44del	XP_016868693.1:n.1268+32_1268+44del
XM_017013205.2:c.1286+32_1286+44del	XP_016868694.1:n.1286+32_1286+44del
XM_017013206.1:c.1199+32_1199+44del	XP_016868695.1:n.1199+32_1199+44del
XM_017013207.2:c.1196+32_1196+44del	XP_016868696.1:n.1196+32_1196+44del
XM_017013208.2:c.1196+32_1196+44del	XP_016868697.1:n.1196+32_1196+44del
XM_017013210.2:c.1178+32_1178+44del	XP_016868699.1:n.1178+32_1178+44del
XM_017013211.2:c.1136+32_1136+44del	XP_016868700.1:n.1136+32_1136+44del
XM_017013212.2:c.1100+32_1100+44del	XP_016868701.1:n.1100+32_1100+44del
XM_017013213.1:c.848+32_848+44del	XP_016868702.1:n.848+32_848+44del
NM_000503.6:c.1199+32_1199+44del MANE Select	NP_000494.2:n.1199+32_1199+44del
NM_001288574.2:c.1181+32_1181+44del	NP_001275503.1:n.1181+32_1181+44del
NM_001288575.2:c.833+32_833+44del	NP_001275504.1:n.833+32_833+44del
NM_001370333.1:c.1286+32_1286+44del	NP_001357262.1:n.1286+32_1286+44del
NM_001370334.1:c.1199+32_1199+44del	NP_001357263.1:n.1199+32_1199+44del
NM_001370335.1:c.1199+32_1199+44del	NP_001357264.1:n.1199+32_1199+44del
NM_001370336.1:c.1178+32_1178+44del	NP_001357265.1:n.1178+32_1178+44del
NM_172058.4:c.1199+32_1199+44del	NP_742055.1:n.1199+32_1199+44del
NM_172059.5:c.1181+32_1181+44del	NP_742056.2:n.1181+32_1181+44del