Canonical Allele Identifier: CA1792693010

Gene: EYA1

Linked Data

• dbSNP Id: rs1809280771

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216905_71216908del , CM000670.2:g.71216905_71216908del	GRCh38
NC_000008.10:g.72129140_72129143del , CM000670.1:g.72129140_72129143del	GRCh37
NC_000008.9:g.72291694_72291697del	NCBI36
NG_011735.2:g.150328_150331del
NG_011735.3:g.336226_336229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1200-53_1200-50del MANE Select	ENSP00000342626.3:n.1200-53_1200-50del
ENST00000388741.7:c.1098-53_1098-50del	ENSP00000373393.2:n.1098-53_1098-50del
ENST00000419131.6:c.1095-53_1095-50del	ENSP00000410176.1:n.1095-53_1095-50del
ENST00000465115.6:c.*479-53_*479-50del	ENSP00000428391.1:n.*479-53_*479-50del
ENST00000493349.2:c.590-53_590-50del
ENST00000496494.6:n.1663-53_1663-50del
ENST00000642391.1:c.*877-53_*877-50del	ENSP00000496700.1:n.*877-53_*877-50del
ENST00000643681.1:c.1287-53_1287-50del	ENSP00000495390.1:n.1287-53_1287-50del
ENST00000644229.1:c.1182-53_1182-50del	ENSP00000494568.1:n.1182-53_1182-50del
ENST00000644424.1:n.270-53_270-50del
ENST00000644712.1:c.1179-53_1179-50del	ENSP00000496188.1:n.1179-53_1179-50del
ENST00000645793.1:c.1200-53_1200-50del	ENSP00000496255.1:n.1200-53_1200-50del
ENST00000647540.1:c.1200-53_1200-50del	ENSP00000494438.1:n.1200-53_1200-50del
ENST00000303824.11:c.1182-53_1182-50del	ENSP00000303221.7:n.1182-53_1182-50del
ENST00000340726.7:c.1200-53_1200-50del	ENSP00000342626.3:n.1200-53_1200-50del
ENST00000388740.4:c.1101-53_1101-50del	ENSP00000373392.3:n.1101-53_1101-50del
ENST00000388741.6:c.1098-53_1098-50del	ENSP00000373393.2:n.1098-53_1098-50del
ENST00000388742.8:c.1200-53_1200-50del	ENSP00000373394.4:n.1200-53_1200-50del
ENST00000388743.6:c.1197-53_1197-50del	ENSP00000373395.2:n.1197-53_1197-50del
ENST00000419131.5:c.1095-53_1095-50del	ENSP00000410176.1:n.1095-53_1095-50del
ENST00000465115.5:c.*479-53_*479-50del	ENSP00000428391.1:n.*479-53_*479-50del
ENST00000493349.1:c.*145-53_*145-50del	ENSP00000428517.1:n.*145-53_*145-50del
ENST00000496494.5:n.1695-53_1695-50del
NM_000503.5:c.1200-53_1200-50del	NP_000494.2:n.1200-53_1200-50del
NM_001288574.1:c.1182-53_1182-50del	NP_001275503.1:n.1182-53_1182-50del
NM_001288575.1:c.834-53_834-50del	NP_001275504.1:n.834-53_834-50del
NM_172058.3:c.1200-53_1200-50del	NP_742055.1:n.1200-53_1200-50del
NM_172059.3:c.1095-53_1095-50del	NP_742056.1:n.1095-53_1095-50del
NM_172060.3:c.1101-53_1101-50del	NP_742057.1:n.1101-53_1101-50del
XM_011517481.1:c.1272-53_1272-50del	XP_011515783.1:n.1272-53_1272-50del
XM_011517482.1:c.1287-53_1287-50del	XP_011515784.1:n.1287-53_1287-50del
XM_011517483.1:c.1197-53_1197-50del	XP_011515785.1:n.1197-53_1197-50del
XM_011517484.1:c.1185-53_1185-50del	XP_011515786.1:n.1185-53_1185-50del
XM_011517485.1:c.1200-53_1200-50del	XP_011515787.1:n.1200-53_1200-50del
XM_011517486.1:c.1200-53_1200-50del	XP_011515788.1:n.1200-53_1200-50del
XM_011517487.1:c.1200-53_1200-50del	XP_011515789.1:n.1200-53_1200-50del
XM_011517488.1:c.1197-53_1197-50del	XP_011515790.1:n.1197-53_1197-50del
XM_011517489.1:c.1137-53_1137-50del	XP_011515791.1:n.1137-53_1137-50del
XM_011517490.1:c.1101-53_1101-50del	XP_011515792.1:n.1101-53_1101-50del
XM_011517491.1:c.1101-53_1101-50del	XP_011515793.1:n.1101-53_1101-50del
XM_011517492.1:c.849-53_849-50del	XP_011515794.1:n.849-53_849-50del
NM_172059.4:c.1182-53_1182-50del	NP_742056.2:n.1182-53_1182-50del
XM_011517483.2:c.1197-53_1197-50del	XP_011515785.1:n.1197-53_1197-50del
XM_011517484.3:c.1272-53_1272-50del	XP_011515786.2:n.1272-53_1272-50del
XM_017013201.1:c.1287-53_1287-50del	XP_016868690.1:n.1287-53_1287-50del
XM_017013202.1:c.1287-53_1287-50del	XP_016868691.1:n.1287-53_1287-50del
XM_017013203.2:c.1284-53_1284-50del	XP_016868692.1:n.1284-53_1284-50del
XM_017013204.2:c.1269-53_1269-50del	XP_016868693.1:n.1269-53_1269-50del
XM_017013205.2:c.1287-53_1287-50del	XP_016868694.1:n.1287-53_1287-50del
XM_017013206.1:c.1200-53_1200-50del	XP_016868695.1:n.1200-53_1200-50del
XM_017013207.2:c.1197-53_1197-50del	XP_016868696.1:n.1197-53_1197-50del
XM_017013208.2:c.1197-53_1197-50del	XP_016868697.1:n.1197-53_1197-50del
XM_017013210.2:c.1179-53_1179-50del	XP_016868699.1:n.1179-53_1179-50del
XM_017013211.2:c.1137-53_1137-50del	XP_016868700.1:n.1137-53_1137-50del
XM_017013212.2:c.1101-53_1101-50del	XP_016868701.1:n.1101-53_1101-50del
XM_017013213.1:c.849-53_849-50del	XP_016868702.1:n.849-53_849-50del
NM_000503.6:c.1200-53_1200-50del MANE Select	NP_000494.2:n.1200-53_1200-50del
NM_001288574.2:c.1182-53_1182-50del	NP_001275503.1:n.1182-53_1182-50del
NM_001288575.2:c.834-53_834-50del	NP_001275504.1:n.834-53_834-50del
NM_001370333.1:c.1287-53_1287-50del	NP_001357262.1:n.1287-53_1287-50del
NM_001370334.1:c.1200-53_1200-50del	NP_001357263.1:n.1200-53_1200-50del
NM_001370335.1:c.1200-53_1200-50del	NP_001357264.1:n.1200-53_1200-50del
NM_001370336.1:c.1179-53_1179-50del	NP_001357265.1:n.1179-53_1179-50del
NM_172058.4:c.1200-53_1200-50del	NP_742055.1:n.1200-53_1200-50del
NM_172059.5:c.1182-53_1182-50del	NP_742056.2:n.1182-53_1182-50del