Canonical Allele Identifier: CA2573143311

Gene: EYA1

Linked Data

• ClinVar Variation Id: 1458401
• ClinVar RCV Id: RCV001956351
• dbSNP Id: rs2128854105

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216816dup , CM000670.2:g.71216816dup	GRCh38
NC_000008.10:g.72129051dup , CM000670.1:g.72129051dup	GRCh37
NC_000008.9:g.72291605dup	NCBI36
NG_011735.2:g.150417dup
NG_011735.3:g.336315dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1236dup MANE Select	ENSP00000342626.3:p.Ala413SerfsTer5
ENST00000388741.7:c.1134dup	ENSP00000373393.2:p.Ala379SerfsTer5
ENST00000419131.6:c.1131dup	ENSP00000410176.1:p.Ala378SerfsTer5
ENST00000465115.6:c.*515dup	ENSP00000428391.1:n.*515dup
ENST00000493349.2:c.626dup
ENST00000496494.6:n.1699dup
ENST00000642391.1:c.*913dup	ENSP00000496700.1:n.*913dup
ENST00000643681.1:c.1323dup	ENSP00000495390.1:p.Ala442SerfsTer5
ENST00000644229.1:c.1218dup	ENSP00000494568.1:p.Ala407SerfsTer5
ENST00000644424.1:n.306dup
ENST00000644712.1:c.1215dup	ENSP00000496188.1:p.Ala406SerfsTer5
ENST00000645793.1:c.1236dup	ENSP00000496255.1:p.Ala413SerfsTer5
ENST00000647540.1:c.1236dup	ENSP00000494438.1:p.Ala413SerfsTer5
ENST00000303824.11:c.1218dup	ENSP00000303221.7:p.Ala407SerfsTer5
ENST00000340726.7:c.1236dup	ENSP00000342626.3:p.Ala413SerfsTer5
ENST00000388740.4:c.1137dup	ENSP00000373392.3:p.Ala380SerfsTer5
ENST00000388741.6:c.1134dup	ENSP00000373393.2:p.Ala379SerfsTer5
ENST00000388742.8:c.1236dup	ENSP00000373394.4:p.Ala413SerfsTer5
ENST00000388743.6:c.1233dup	ENSP00000373395.2:p.Ala412SerfsTer5
ENST00000419131.5:c.1131dup	ENSP00000410176.1:p.Ala378SerfsTer5
ENST00000465115.5:c.*515dup	ENSP00000428391.1:n.*515dup
ENST00000493349.1:c.*181dup	ENSP00000428517.1:n.*181dup
ENST00000496494.5:n.1731dup
NM_000503.5:c.1236dup	NP_000494.2:p.Ala413SerfsTer5
NM_001288574.1:c.1218dup	NP_001275503.1:p.Ala407SerfsTer5
NM_001288575.1:c.870dup	NP_001275504.1:p.Ala291SerfsTer5
NM_172058.3:c.1236dup	NP_742055.1:p.Ala413SerfsTer5
NM_172059.3:c.1131dup	NP_742056.1:p.Ala378SerfsTer5
NM_172060.3:c.1137dup	NP_742057.1:p.Ala380SerfsTer5
XM_011517481.1:c.1308dup	XP_011515783.1:p.Ala437SerfsTer5
XM_011517482.1:c.1323dup	XP_011515784.1:p.Ala442SerfsTer5
XM_011517483.1:c.1233dup	XP_011515785.1:p.Ala412SerfsTer5
XM_011517484.1:c.1221dup	XP_011515786.1:p.Ala408SerfsTer5
XM_011517485.1:c.1236dup	XP_011515787.1:p.Ala413SerfsTer5
XM_011517486.1:c.1236dup	XP_011515788.1:p.Ala413SerfsTer5
XM_011517487.1:c.1236dup	XP_011515789.1:p.Ala413SerfsTer5
XM_011517488.1:c.1233dup	XP_011515790.1:p.Ala412SerfsTer5
XM_011517489.1:c.1173dup	XP_011515791.1:p.Ala392SerfsTer5
XM_011517490.1:c.1137dup	XP_011515792.1:p.Ala380SerfsTer5
XM_011517491.1:c.1137dup	XP_011515793.1:p.Ala380SerfsTer5
XM_011517492.1:c.885dup	XP_011515794.1:p.Ala296SerfsTer5
NM_172059.4:c.1218dup	NP_742056.2:p.Ala407SerfsTer5
XM_011517483.2:c.1233dup	XP_011515785.1:p.Ala412SerfsTer5
XM_011517484.3:c.1308dup	XP_011515786.2:p.Ala437SerfsTer5
XM_017013201.1:c.1323dup	XP_016868690.1:p.Ala442SerfsTer5
XM_017013202.1:c.1323dup	XP_016868691.1:p.Ala442SerfsTer5
XM_017013203.2:c.1320dup	XP_016868692.1:p.Ala441SerfsTer5
XM_017013204.2:c.1305dup	XP_016868693.1:p.Ala436SerfsTer5
XM_017013205.2:c.1323dup	XP_016868694.1:p.Ala442SerfsTer5
XM_017013206.1:c.1236dup	XP_016868695.1:p.Ala413SerfsTer5
XM_017013207.2:c.1233dup	XP_016868696.1:p.Ala412SerfsTer5
XM_017013208.2:c.1233dup	XP_016868697.1:p.Ala412SerfsTer5
XM_017013210.2:c.1215dup	XP_016868699.1:p.Ala406SerfsTer5
XM_017013211.2:c.1173dup	XP_016868700.1:p.Ala392SerfsTer5
XM_017013212.2:c.1137dup	XP_016868701.1:p.Ala380SerfsTer5
XM_017013213.1:c.885dup	XP_016868702.1:p.Ala296SerfsTer5
NM_000503.6:c.1236dup MANE Select	NP_000494.2:p.Ala413SerfsTer5
NM_001288574.2:c.1218dup	NP_001275503.1:p.Ala407SerfsTer5
NM_001288575.2:c.870dup	NP_001275504.1:p.Ala291SerfsTer5
NM_001370333.1:c.1323dup	NP_001357262.1:p.Ala442SerfsTer5
NM_001370334.1:c.1236dup	NP_001357263.1:p.Ala413SerfsTer5
NM_001370335.1:c.1236dup	NP_001357264.1:p.Ala413SerfsTer5
NM_001370336.1:c.1215dup	NP_001357265.1:p.Ala406SerfsTer5
NM_172058.4:c.1236dup	NP_742055.1:p.Ala413SerfsTer5
NM_172059.5:c.1218dup	NP_742056.2:p.Ala407SerfsTer5