Canonical Allele Identifier: CA2687599701

Gene: EYA1

Linked Data

• gnomAD v4: 8-71216803-TAGCACTGGTTGCTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216808_71216822del , CM000670.2:g.71216808_71216822del	GRCh38
NC_000008.10:g.72129043_72129057del , CM000670.1:g.72129043_72129057del	GRCh37
NC_000008.9:g.72291597_72291611del	NCBI36
NG_011735.2:g.150415_150429del
NG_011735.3:g.336313_336327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1234_1248del MANE Select	ENSP00000342626.3:p.Ala412_Ala416del
ENST00000388741.7:c.1132_1146del	ENSP00000373393.2:p.Ala378_Ala382del
ENST00000419131.6:c.1129_1143del	ENSP00000410176.1:p.Ala377_Ala381del
ENST00000465115.6:c.*513_*527del	ENSP00000428391.1:n.*513_*527del
ENST00000493349.2:c.624_638del
ENST00000496494.6:n.1697_1711del
ENST00000642391.1:c.*911_*925del	ENSP00000496700.1:n.*911_*925del
ENST00000643681.1:c.1321_1335del	ENSP00000495390.1:p.Ala441_Ala445del
ENST00000644229.1:c.1216_1230del	ENSP00000494568.1:p.Ala406_Ala410del
ENST00000644424.1:n.304_318del
ENST00000644712.1:c.1213_1227del	ENSP00000496188.1:p.Ala405_Ala409del
ENST00000645793.1:c.1234_1248del	ENSP00000496255.1:p.Ala412_Ala416del
ENST00000647540.1:c.1234_1248del	ENSP00000494438.1:p.Ala412_Ala416del
ENST00000303824.11:c.1216_1230del	ENSP00000303221.7:p.Ala406_Ala410del
ENST00000340726.7:c.1234_1248del	ENSP00000342626.3:p.Ala412_Ala416del
ENST00000388740.4:c.1135_1149del	ENSP00000373392.3:p.Ala379_Ala383del
ENST00000388741.6:c.1132_1146del	ENSP00000373393.2:p.Ala378_Ala382del
ENST00000388742.8:c.1234_1248del	ENSP00000373394.4:p.Ala412_Ala416del
ENST00000388743.6:c.1231_1245del	ENSP00000373395.2:p.Ala411_Ala415del
ENST00000419131.5:c.1129_1143del	ENSP00000410176.1:p.Ala377_Ala381del
ENST00000465115.5:c.*513_*527del	ENSP00000428391.1:n.*513_*527del
ENST00000493349.1:c.*179_*193del	ENSP00000428517.1:n.*179_*193del
ENST00000496494.5:n.1729_1743del
NM_000503.5:c.1234_1248del	NP_000494.2:p.Ala412_Ala416del
NM_001288574.1:c.1216_1230del	NP_001275503.1:p.Ala406_Ala410del
NM_001288575.1:c.868_882del	NP_001275504.1:p.Ala290_Ala294del
NM_172058.3:c.1234_1248del	NP_742055.1:p.Ala412_Ala416del
NM_172059.3:c.1129_1143del	NP_742056.1:p.Ala377_Ala381del
NM_172060.3:c.1135_1149del	NP_742057.1:p.Ala379_Ala383del
XM_011517481.1:c.1306_1320del	XP_011515783.1:p.Ala436_Ala440del
XM_011517482.1:c.1321_1335del	XP_011515784.1:p.Ala441_Ala445del
XM_011517483.1:c.1231_1245del	XP_011515785.1:p.Ala411_Ala415del
XM_011517484.1:c.1219_1233del	XP_011515786.1:p.Ala407_Ala411del
XM_011517485.1:c.1234_1248del	XP_011515787.1:p.Ala412_Ala416del
XM_011517486.1:c.1234_1248del	XP_011515788.1:p.Ala412_Ala416del
XM_011517487.1:c.1234_1248del	XP_011515789.1:p.Ala412_Ala416del
XM_011517488.1:c.1231_1245del	XP_011515790.1:p.Ala411_Ala415del
XM_011517489.1:c.1171_1185del	XP_011515791.1:p.Ala391_Ala395del
XM_011517490.1:c.1135_1149del	XP_011515792.1:p.Ala379_Ala383del
XM_011517491.1:c.1135_1149del	XP_011515793.1:p.Ala379_Ala383del
XM_011517492.1:c.883_897del	XP_011515794.1:p.Ala295_Ala299del
NM_172059.4:c.1216_1230del	NP_742056.2:p.Ala406_Ala410del
XM_011517483.2:c.1231_1245del	XP_011515785.1:p.Ala411_Ala415del
XM_011517484.3:c.1306_1320del	XP_011515786.2:p.Ala436_Ala440del
XM_017013201.1:c.1321_1335del	XP_016868690.1:p.Ala441_Ala445del
XM_017013202.1:c.1321_1335del	XP_016868691.1:p.Ala441_Ala445del
XM_017013203.2:c.1318_1332del	XP_016868692.1:p.Ala440_Ala444del
XM_017013204.2:c.1303_1317del	XP_016868693.1:p.Ala435_Ala439del
XM_017013205.2:c.1321_1335del	XP_016868694.1:p.Ala441_Ala445del
XM_017013206.1:c.1234_1248del	XP_016868695.1:p.Ala412_Ala416del
XM_017013207.2:c.1231_1245del	XP_016868696.1:p.Ala411_Ala415del
XM_017013208.2:c.1231_1245del	XP_016868697.1:p.Ala411_Ala415del
XM_017013210.2:c.1213_1227del	XP_016868699.1:p.Ala405_Ala409del
XM_017013211.2:c.1171_1185del	XP_016868700.1:p.Ala391_Ala395del
XM_017013212.2:c.1135_1149del	XP_016868701.1:p.Ala379_Ala383del
XM_017013213.1:c.883_897del	XP_016868702.1:p.Ala295_Ala299del
NM_000503.6:c.1234_1248del MANE Select	NP_000494.2:p.Ala412_Ala416del
NM_001288574.2:c.1216_1230del	NP_001275503.1:p.Ala406_Ala410del
NM_001288575.2:c.868_882del	NP_001275504.1:p.Ala290_Ala294del
NM_001370333.1:c.1321_1335del	NP_001357262.1:p.Ala441_Ala445del
NM_001370334.1:c.1234_1248del	NP_001357263.1:p.Ala412_Ala416del
NM_001370335.1:c.1234_1248del	NP_001357264.1:p.Ala412_Ala416del
NM_001370336.1:c.1213_1227del	NP_001357265.1:p.Ala405_Ala409del
NM_172058.4:c.1234_1248del	NP_742055.1:p.Ala412_Ala416del
NM_172059.5:c.1216_1230del	NP_742056.2:p.Ala406_Ala410del