Canonical Allele Identifier: CA2695209877

Gene: EYA1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216798_71216799del , CM000670.2:g.71216798_71216799del	GRCh38
NC_000008.10:g.72129033_72129034del , CM000670.1:g.72129033_72129034del	GRCh37
NC_000008.9:g.72291587_72291588del	NCBI36
NG_011735.2:g.150435_150436del
NG_011735.3:g.336333_336334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1254_1255del MANE Select	ENSP00000342626.3:p.Cys419PhefsTer?
ENST00000388741.7:c.1152_1153del	ENSP00000373393.2:p.Cys385PhefsTer?
ENST00000419131.6:c.1149_1150del	ENSP00000410176.1:p.Cys384PhefsTer?
ENST00000465115.6:c.*533_*534del	ENSP00000428391.1:n.*533_*534del
ENST00000493349.2:c.644_645del
ENST00000496494.6:n.1717_1718del
ENST00000642391.1:c.*931_*932del	ENSP00000496700.1:n.*931_*932del
ENST00000643681.1:c.1341_1342del	ENSP00000495390.1:p.Cys448PhefsTer?
ENST00000644229.1:c.1236_1237del	ENSP00000494568.1:p.Cys413PhefsTer?
ENST00000644424.1:n.324_325del
ENST00000644712.1:c.1233_1234del	ENSP00000496188.1:p.Cys412PhefsTer?
ENST00000645793.1:c.1254_1255del	ENSP00000496255.1:p.Cys419PhefsTer?
ENST00000647540.1:c.1254_1255del	ENSP00000494438.1:p.Cys419PhefsTer?
ENST00000303824.11:c.1236_1237del	ENSP00000303221.7:p.Cys413PhefsTer?
ENST00000340726.7:c.1254_1255del	ENSP00000342626.3:p.Cys419PhefsTer?
ENST00000388740.4:c.1155_1156del	ENSP00000373392.3:p.Cys386PhefsTer?
ENST00000388741.6:c.1152_1153del	ENSP00000373393.2:p.Cys385PhefsTer?
ENST00000388742.8:c.1254_1255del	ENSP00000373394.4:p.Cys419PhefsTer?
ENST00000388743.6:c.1251_1252del	ENSP00000373395.2:p.Cys418PhefsTer?
ENST00000419131.5:c.1149_1150del	ENSP00000410176.1:p.Cys384PhefsTer?
ENST00000465115.5:c.*533_*534del	ENSP00000428391.1:n.*533_*534del
ENST00000493349.1:c.*199_*200del	ENSP00000428517.1:n.*199_*200del
ENST00000496494.5:n.1749_1750del
NM_000503.5:c.1254_1255del	NP_000494.2:p.Cys419PhefsTer?
NM_001288574.1:c.1236_1237del	NP_001275503.1:p.Cys413PhefsTer?
NM_001288575.1:c.888_889del	NP_001275504.1:p.Cys297PhefsTer?
NM_172058.3:c.1254_1255del	NP_742055.1:p.Cys419PhefsTer?
NM_172059.3:c.1149_1150del	NP_742056.1:p.Cys384PhefsTer?
NM_172060.3:c.1155_1156del	NP_742057.1:p.Cys386PhefsTer?
XM_011517481.1:c.1326_1327del	XP_011515783.1:p.Cys443PhefsTer?
XM_011517482.1:c.1341_1342del	XP_011515784.1:p.Cys448PhefsTer?
XM_011517483.1:c.1251_1252del	XP_011515785.1:p.Cys418PhefsTer?
XM_011517484.1:c.1239_1240del	XP_011515786.1:p.Cys414PhefsTer?
XM_011517485.1:c.1254_1255del	XP_011515787.1:p.Cys419PhefsTer?
XM_011517486.1:c.1254_1255del	XP_011515788.1:p.Cys419PhefsTer?
XM_011517487.1:c.1254_1255del	XP_011515789.1:p.Cys419PhefsTer?
XM_011517488.1:c.1251_1252del	XP_011515790.1:p.Cys418PhefsTer?
XM_011517489.1:c.1191_1192del	XP_011515791.1:p.Cys398PhefsTer?
XM_011517490.1:c.1155_1156del	XP_011515792.1:p.Cys386PhefsTer?
XM_011517491.1:c.1155_1156del	XP_011515793.1:p.Cys386PhefsTer?
XM_011517492.1:c.903_904del	XP_011515794.1:p.Cys302PhefsTer?
NM_172059.4:c.1236_1237del	NP_742056.2:p.Cys413PhefsTer?
XM_011517483.2:c.1251_1252del	XP_011515785.1:p.Cys418PhefsTer?
XM_011517484.3:c.1326_1327del	XP_011515786.2:p.Cys443PhefsTer?
XM_017013201.1:c.1341_1342del	XP_016868690.1:p.Cys448PhefsTer?
XM_017013202.1:c.1341_1342del	XP_016868691.1:p.Cys448PhefsTer?
XM_017013203.2:c.1338_1339del	XP_016868692.1:p.Cys447PhefsTer?
XM_017013204.2:c.1323_1324del	XP_016868693.1:p.Cys442PhefsTer?
XM_017013205.2:c.1341_1342del	XP_016868694.1:p.Cys448PhefsTer?
XM_017013206.1:c.1254_1255del	XP_016868695.1:p.Cys419PhefsTer?
XM_017013207.2:c.1251_1252del	XP_016868696.1:p.Cys418PhefsTer?
XM_017013208.2:c.1251_1252del	XP_016868697.1:p.Cys418PhefsTer?
XM_017013210.2:c.1233_1234del	XP_016868699.1:p.Cys412PhefsTer?
XM_017013211.2:c.1191_1192del	XP_016868700.1:p.Cys398PhefsTer?
XM_017013212.2:c.1155_1156del	XP_016868701.1:p.Cys386PhefsTer?
XM_017013213.1:c.903_904del	XP_016868702.1:p.Cys302PhefsTer?
NM_000503.6:c.1254_1255del MANE Select	NP_000494.2:p.Cys419PhefsTer?
NM_001288574.2:c.1236_1237del	NP_001275503.1:p.Cys413PhefsTer?
NM_001288575.2:c.888_889del	NP_001275504.1:p.Cys297PhefsTer?
NM_001370333.1:c.1341_1342del	NP_001357262.1:p.Cys448PhefsTer?
NM_001370334.1:c.1254_1255del	NP_001357263.1:p.Cys419PhefsTer?
NM_001370335.1:c.1254_1255del	NP_001357264.1:p.Cys419PhefsTer?
NM_001370336.1:c.1233_1234del	NP_001357265.1:p.Cys412PhefsTer?
NM_172058.4:c.1254_1255del	NP_742055.1:p.Cys419PhefsTer?
NM_172059.5:c.1236_1237del	NP_742056.2:p.Cys413PhefsTer?