Canonical Allele Identifier: CA658656016

Gene: EYA1

Linked Data

• ClinVar Variation Id: 459252
• ClinVar RCV Id: RCV001770415 ; RCV002231039
• dbSNP Id: rs1554605968
• MyVariant Identifiers: chr8:g.72156831_72156834del (hg19) ; chr8:g.71244596_71244599del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71244596_71244599del , CM000670.2:g.71244596_71244599del	GRCh38
NC_000008.10:g.72156831_72156834del , CM000670.1:g.72156831_72156834del	GRCh37
NC_000008.9:g.72319385_72319388del	NCBI36
NG_011735.2:g.122634_122637del
NG_011735.3:g.308532_308535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1140+4_1140+7del MANE Select	ENSP00000342626.3:n.1140+4_1140+7del
ENST00000388741.7:c.1038+4_1038+7del	ENSP00000373393.2:n.1038+4_1038+7del
ENST00000419131.6:c.1035+25141_1035+25144del	ENSP00000410176.1:n.1035+25141_1035+25144del
ENST00000465115.6:c.*419+4_*419+7del	ENSP00000428391.1:n.*419+4_*419+7del
ENST00000493349.2:c.376+4_376+7del
ENST00000496494.6:n.1603+4_1603+7del
ENST00000642391.1:c.*817+25141_*817+25144del	ENSP00000496700.1:n.*817+25141_*817+25144del
ENST00000643681.1:c.1227+4_1227+7del	ENSP00000495390.1:n.1227+4_1227+7del
ENST00000644229.1:c.1122+25141_1122+25144del	ENSP00000494568.1:n.1122+25141_1122+25144del
ENST00000644424.1:n.210+4_210+7del
ENST00000644712.1:c.1119+25141_1119+25144del	ENSP00000496188.1:n.1119+25141_1119+25144del
ENST00000645793.1:c.1140+4_1140+7del	ENSP00000496255.1:n.1140+4_1140+7del
ENST00000647540.1:c.1140+4_1140+7del	ENSP00000494438.1:n.1140+4_1140+7del
ENST00000303824.11:c.1122+4_1122+7del	ENSP00000303221.7:n.1122+4_1122+7del
ENST00000340726.7:c.1140+4_1140+7del	ENSP00000342626.3:n.1140+4_1140+7del
ENST00000388740.4:c.1041+4_1041+7del	ENSP00000373392.3:n.1041+4_1041+7del
ENST00000388741.6:c.1038+4_1038+7del	ENSP00000373393.2:n.1038+4_1038+7del
ENST00000388742.8:c.1140+4_1140+7del	ENSP00000373394.4:n.1140+4_1140+7del
ENST00000388743.6:c.1137+4_1137+7del	ENSP00000373395.2:n.1137+4_1137+7del
ENST00000419131.5:c.1035+25141_1035+25144del	ENSP00000410176.1:n.1035+25141_1035+25144del
ENST00000465115.5:c.*419+4_*419+7del	ENSP00000428391.1:n.*419+4_*419+7del
ENST00000493349.1:c.57+4_57+7del	ENSP00000428517.1:n.57+4_57+7del
ENST00000496494.5:n.1635+4_1635+7del
NM_000503.5:c.1140+4_1140+7del	NP_000494.2:n.1140+4_1140+7del
NM_001288574.1:c.1122+4_1122+7del	NP_001275503.1:n.1122+4_1122+7del
NM_001288575.1:c.774+4_774+7del	NP_001275504.1:n.774+4_774+7del
NM_172058.3:c.1140+4_1140+7del	NP_742055.1:n.1140+4_1140+7del
NM_172059.3:c.1035+25141_1035+25144del	NP_742056.1:n.1035+25141_1035+25144del
NM_172060.3:c.1041+4_1041+7del	NP_742057.1:n.1041+4_1041+7del
XM_011517481.1:c.1212+4_1212+7del	XP_011515783.1:n.1212+4_1212+7del
XM_011517482.1:c.1227+4_1227+7del	XP_011515784.1:n.1227+4_1227+7del
XM_011517483.1:c.1137+4_1137+7del	XP_011515785.1:n.1137+4_1137+7del
XM_011517484.1:c.1125+4_1125+7del	XP_011515786.1:n.1125+4_1125+7del
XM_011517485.1:c.1140+4_1140+7del	XP_011515787.1:n.1140+4_1140+7del
XM_011517486.1:c.1140+4_1140+7del	XP_011515788.1:n.1140+4_1140+7del
XM_011517487.1:c.1140+4_1140+7del	XP_011515789.1:n.1140+4_1140+7del
XM_011517488.1:c.1137+4_1137+7del	XP_011515790.1:n.1137+4_1137+7del
XM_011517489.1:c.1077+4_1077+7del	XP_011515791.1:n.1077+4_1077+7del
XM_011517490.1:c.1041+4_1041+7del	XP_011515792.1:n.1041+4_1041+7del
XM_011517491.1:c.1041+4_1041+7del	XP_011515793.1:n.1041+4_1041+7del
XM_011517492.1:c.789+4_789+7del	XP_011515794.1:n.789+4_789+7del
NM_172059.4:c.1122+25141_1122+25144del	NP_742056.2:n.1122+25141_1122+25144del
XM_011517483.2:c.1137+4_1137+7del	XP_011515785.1:n.1137+4_1137+7del
XM_011517484.3:c.1212+4_1212+7del	XP_011515786.2:n.1212+4_1212+7del
XM_017013201.1:c.1227+4_1227+7del	XP_016868690.1:n.1227+4_1227+7del
XM_017013202.1:c.1227+4_1227+7del	XP_016868691.1:n.1227+4_1227+7del
XM_017013203.2:c.1224+4_1224+7del	XP_016868692.1:n.1224+4_1224+7del
XM_017013204.2:c.1209+4_1209+7del	XP_016868693.1:n.1209+4_1209+7del
XM_017013205.2:c.1227+4_1227+7del	XP_016868694.1:n.1227+4_1227+7del
XM_017013206.1:c.1140+4_1140+7del	XP_016868695.1:n.1140+4_1140+7del
XM_017013207.2:c.1137+25141_1137+25144del	XP_016868696.1:n.1137+25141_1137+25144del
XM_017013208.2:c.1137+4_1137+7del	XP_016868697.1:n.1137+4_1137+7del
XM_017013210.2:c.1119+25141_1119+25144del	XP_016868699.1:n.1119+25141_1119+25144del
XM_017013211.2:c.1077+4_1077+7del	XP_016868700.1:n.1077+4_1077+7del
XM_017013212.2:c.1041+4_1041+7del	XP_016868701.1:n.1041+4_1041+7del
XM_017013213.1:c.789+4_789+7del	XP_016868702.1:n.789+4_789+7del
NM_000503.6:c.1140+4_1140+7del MANE Select	NP_000494.2:n.1140+4_1140+7del
NM_001288574.2:c.1122+4_1122+7del	NP_001275503.1:n.1122+4_1122+7del
NM_001288575.2:c.774+4_774+7del	NP_001275504.1:n.774+4_774+7del
NM_001370333.1:c.1227+4_1227+7del	NP_001357262.1:n.1227+4_1227+7del
NM_001370334.1:c.1140+4_1140+7del	NP_001357263.1:n.1140+4_1140+7del
NM_001370335.1:c.1140+4_1140+7del	NP_001357264.1:n.1140+4_1140+7del
NM_001370336.1:c.1119+25141_1119+25144del	NP_001357265.1:n.1119+25141_1119+25144del
NM_172058.4:c.1140+4_1140+7del	NP_742055.1:n.1140+4_1140+7del
NM_172059.5:c.1122+25141_1122+25144del	NP_742056.2:n.1122+25141_1122+25144del