Canonical Allele Identifier: CA10631478

Gene: EYA1

Linked Data

• ClinVar Variation Id: 363641
• ClinVar RCV Id: RCV000278625 ; RCV000338465
• dbSNP Id: rs146202037
• gnomAD v2: 8-72111062-GTTTT-G
• gnomAD v3: 8-71198827-GTTTT-G
• gnomAD v4: 8-71198827-GTTTT-G
• MyVariant Identifiers: chr8:g.72111063_72111066del (hg19) ; chr8:g.71198828_71198831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71198831_71198834del , CM000670.2:g.71198831_71198834del	GRCh38
NC_000008.10:g.72111066_72111069del , CM000670.1:g.72111066_72111069del	GRCh37
NC_000008.9:g.72273620_72273623del	NCBI36
NG_011735.2:g.168402_168405del
NG_011735.3:g.354300_354303del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.*509_*512del MANE Select	ENSP00000342626.3:n.*509_*512del
ENST00000419131.6:c.*509_*512del	ENSP00000410176.1:n.*509_*512del
ENST00000465115.6:c.*1567_*1570del	ENSP00000428391.1:n.*1567_*1570del
ENST00000642391.1:c.*1965_*1968del	ENSP00000496700.1:n.*1965_*1968del
ENST00000643681.1:c.*509_*512del	ENSP00000495390.1:n.*509_*512del
ENST00000644229.1:c.*509_*512del	ENSP00000494568.1:n.*509_*512del
ENST00000644424.1:n.1358_1361del
ENST00000644712.1:c.*509_*512del	ENSP00000496188.1:n.*509_*512del
ENST00000645793.1:c.*509_*512del	ENSP00000496255.1:n.*509_*512del
ENST00000647540.1:c.*509_*512del	ENSP00000494438.1:n.*509_*512del
ENST00000303824.11:c.*509_*512del	ENSP00000303221.7:n.*509_*512del
ENST00000340726.7:c.*509_*512del	ENSP00000342626.3:n.*509_*512del
ENST00000388740.4:c.*509_*512del	ENSP00000373392.3:n.*509_*512del
ENST00000388741.6:c.*509_*512del	ENSP00000373393.2:n.*509_*512del
ENST00000388742.8:c.*509_*512del	ENSP00000373394.4:n.*509_*512del
ENST00000465115.5:c.*1567_*1570del	ENSP00000428391.1:n.*1567_*1570del
NM_000503.5:c.*509_*512del	NP_000494.2:n.*509_*512del
NM_001288574.1:c.*509_*512del	NP_001275503.1:n.*509_*512del
NM_001288575.1:c.*509_*512del	NP_001275504.1:n.*509_*512del
NM_172058.3:c.*509_*512del	NP_742055.1:n.*509_*512del
NM_172059.3:c.*509_*512del	NP_742056.1:n.*509_*512del
NM_172060.3:c.*509_*512del	NP_742057.1:n.*509_*512del
XM_011517481.1:c.*396_*399del	XP_011515783.1:n.*396_*399del
XM_011517482.1:c.*396_*399del	XP_011515784.1:n.*396_*399del
XM_011517483.1:c.*509_*512del	XP_011515785.1:n.*509_*512del
XM_011517484.1:c.*509_*512del	XP_011515786.1:n.*509_*512del
XM_011517485.1:c.*396_*399del	XP_011515787.1:n.*396_*399del
XM_011517486.1:c.*396_*399del	XP_011515788.1:n.*396_*399del
XM_011517487.1:c.*396_*399del	XP_011515789.1:n.*396_*399del
XM_011517488.1:c.*396_*399del	XP_011515790.1:n.*396_*399del
XM_011517489.1:c.*396_*399del	XP_011515791.1:n.*396_*399del
XM_011517490.1:c.*396_*399del	XP_011515792.1:n.*396_*399del
XM_011517491.1:c.*396_*399del	XP_011515793.1:n.*396_*399del
XM_011517492.1:c.*396_*399del	XP_011515794.1:n.*396_*399del
XR_929038.1:n.180-309_180-306del
NM_172059.4:c.*509_*512del	NP_742056.2:n.*509_*512del
XM_011517483.2:c.*509_*512del	XP_011515785.1:n.*509_*512del
XM_011517484.3:c.*509_*512del	XP_011515786.2:n.*509_*512del
XM_017013201.1:c.*509_*512del	XP_016868690.1:n.*509_*512del
XM_017013202.1:c.*509_*512del	XP_016868691.1:n.*509_*512del
XM_017013203.2:c.*509_*512del	XP_016868692.1:n.*509_*512del
XM_017013204.2:c.*509_*512del	XP_016868693.1:n.*509_*512del
XM_017013206.1:c.*509_*512del	XP_016868695.1:n.*509_*512del
XM_017013207.2:c.*509_*512del	XP_016868696.1:n.*509_*512del
XM_017013208.2:c.*509_*512del	XP_016868697.1:n.*509_*512del
XM_017013210.2:c.*509_*512del	XP_016868699.1:n.*509_*512del
XM_017013211.2:c.*509_*512del	XP_016868700.1:n.*509_*512del
XM_017013212.2:c.*509_*512del	XP_016868701.1:n.*509_*512del
XM_017013213.1:c.*509_*512del	XP_016868702.1:n.*509_*512del
XR_001745954.1:n.4803-309_4803-306del
NM_000503.6:c.*509_*512del MANE Select	NP_000494.2:n.*509_*512del
NM_001288574.2:c.*509_*512del	NP_001275503.1:n.*509_*512del
NM_001288575.2:c.*509_*512del	NP_001275504.1:n.*509_*512del
NM_001370333.1:c.*509_*512del	NP_001357262.1:n.*509_*512del
NM_001370334.1:c.*509_*512del	NP_001357263.1:n.*509_*512del
NM_001370335.1:c.*509_*512del	NP_001357264.1:n.*509_*512del
NM_001370336.1:c.*509_*512del	NP_001357265.1:n.*509_*512del
NM_172058.4:c.*509_*512del	NP_742055.1:n.*509_*512del
NM_172059.5:c.*509_*512del	NP_742056.2:n.*509_*512del