Canonical Allele Identifier: CA2687599706

Gene: EYA1

Linked Data

• gnomAD v4: 8-71216875-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216877_71216878del , CM000670.2:g.71216877_71216878del	GRCh38
NC_000008.10:g.72129112_72129113del , CM000670.1:g.72129112_72129113del	GRCh37
NC_000008.9:g.72291666_72291667del	NCBI36
NG_011735.2:g.150356_150357del
NG_011735.3:g.336254_336255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1200-25_1200-24del MANE Select	ENSP00000342626.3:n.1200-25_1200-24del
ENST00000388741.7:c.1098-25_1098-24del	ENSP00000373393.2:n.1098-25_1098-24del
ENST00000419131.6:c.1095-25_1095-24del	ENSP00000410176.1:n.1095-25_1095-24del
ENST00000465115.6:c.*479-25_*479-24del	ENSP00000428391.1:n.*479-25_*479-24del
ENST00000493349.2:c.590-25_590-24del
ENST00000496494.6:n.1663-25_1663-24del
ENST00000642391.1:c.*877-25_*877-24del	ENSP00000496700.1:n.*877-25_*877-24del
ENST00000643681.1:c.1287-25_1287-24del	ENSP00000495390.1:n.1287-25_1287-24del
ENST00000644229.1:c.1182-25_1182-24del	ENSP00000494568.1:n.1182-25_1182-24del
ENST00000644424.1:n.270-25_270-24del
ENST00000644712.1:c.1179-25_1179-24del	ENSP00000496188.1:n.1179-25_1179-24del
ENST00000645793.1:c.1200-25_1200-24del	ENSP00000496255.1:n.1200-25_1200-24del
ENST00000647540.1:c.1200-25_1200-24del	ENSP00000494438.1:n.1200-25_1200-24del
ENST00000303824.11:c.1182-25_1182-24del	ENSP00000303221.7:n.1182-25_1182-24del
ENST00000340726.7:c.1200-25_1200-24del	ENSP00000342626.3:n.1200-25_1200-24del
ENST00000388740.4:c.1101-25_1101-24del	ENSP00000373392.3:n.1101-25_1101-24del
ENST00000388741.6:c.1098-25_1098-24del	ENSP00000373393.2:n.1098-25_1098-24del
ENST00000388742.8:c.1200-25_1200-24del	ENSP00000373394.4:n.1200-25_1200-24del
ENST00000388743.6:c.1197-25_1197-24del	ENSP00000373395.2:n.1197-25_1197-24del
ENST00000419131.5:c.1095-25_1095-24del	ENSP00000410176.1:n.1095-25_1095-24del
ENST00000465115.5:c.*479-25_*479-24del	ENSP00000428391.1:n.*479-25_*479-24del
ENST00000493349.1:c.*145-25_*145-24del	ENSP00000428517.1:n.*145-25_*145-24del
ENST00000496494.5:n.1695-25_1695-24del
NM_000503.5:c.1200-25_1200-24del	NP_000494.2:n.1200-25_1200-24del
NM_001288574.1:c.1182-25_1182-24del	NP_001275503.1:n.1182-25_1182-24del
NM_001288575.1:c.834-25_834-24del	NP_001275504.1:n.834-25_834-24del
NM_172058.3:c.1200-25_1200-24del	NP_742055.1:n.1200-25_1200-24del
NM_172059.3:c.1095-25_1095-24del	NP_742056.1:n.1095-25_1095-24del
NM_172060.3:c.1101-25_1101-24del	NP_742057.1:n.1101-25_1101-24del
XM_011517481.1:c.1272-25_1272-24del	XP_011515783.1:n.1272-25_1272-24del
XM_011517482.1:c.1287-25_1287-24del	XP_011515784.1:n.1287-25_1287-24del
XM_011517483.1:c.1197-25_1197-24del	XP_011515785.1:n.1197-25_1197-24del
XM_011517484.1:c.1185-25_1185-24del	XP_011515786.1:n.1185-25_1185-24del
XM_011517485.1:c.1200-25_1200-24del	XP_011515787.1:n.1200-25_1200-24del
XM_011517486.1:c.1200-25_1200-24del	XP_011515788.1:n.1200-25_1200-24del
XM_011517487.1:c.1200-25_1200-24del	XP_011515789.1:n.1200-25_1200-24del
XM_011517488.1:c.1197-25_1197-24del	XP_011515790.1:n.1197-25_1197-24del
XM_011517489.1:c.1137-25_1137-24del	XP_011515791.1:n.1137-25_1137-24del
XM_011517490.1:c.1101-25_1101-24del	XP_011515792.1:n.1101-25_1101-24del
XM_011517491.1:c.1101-25_1101-24del	XP_011515793.1:n.1101-25_1101-24del
XM_011517492.1:c.849-25_849-24del	XP_011515794.1:n.849-25_849-24del
NM_172059.4:c.1182-25_1182-24del	NP_742056.2:n.1182-25_1182-24del
XM_011517483.2:c.1197-25_1197-24del	XP_011515785.1:n.1197-25_1197-24del
XM_011517484.3:c.1272-25_1272-24del	XP_011515786.2:n.1272-25_1272-24del
XM_017013201.1:c.1287-25_1287-24del	XP_016868690.1:n.1287-25_1287-24del
XM_017013202.1:c.1287-25_1287-24del	XP_016868691.1:n.1287-25_1287-24del
XM_017013203.2:c.1284-25_1284-24del	XP_016868692.1:n.1284-25_1284-24del
XM_017013204.2:c.1269-25_1269-24del	XP_016868693.1:n.1269-25_1269-24del
XM_017013205.2:c.1287-25_1287-24del	XP_016868694.1:n.1287-25_1287-24del
XM_017013206.1:c.1200-25_1200-24del	XP_016868695.1:n.1200-25_1200-24del
XM_017013207.2:c.1197-25_1197-24del	XP_016868696.1:n.1197-25_1197-24del
XM_017013208.2:c.1197-25_1197-24del	XP_016868697.1:n.1197-25_1197-24del
XM_017013210.2:c.1179-25_1179-24del	XP_016868699.1:n.1179-25_1179-24del
XM_017013211.2:c.1137-25_1137-24del	XP_016868700.1:n.1137-25_1137-24del
XM_017013212.2:c.1101-25_1101-24del	XP_016868701.1:n.1101-25_1101-24del
XM_017013213.1:c.849-25_849-24del	XP_016868702.1:n.849-25_849-24del
NM_000503.6:c.1200-25_1200-24del MANE Select	NP_000494.2:n.1200-25_1200-24del
NM_001288574.2:c.1182-25_1182-24del	NP_001275503.1:n.1182-25_1182-24del
NM_001288575.2:c.834-25_834-24del	NP_001275504.1:n.834-25_834-24del
NM_001370333.1:c.1287-25_1287-24del	NP_001357262.1:n.1287-25_1287-24del
NM_001370334.1:c.1200-25_1200-24del	NP_001357263.1:n.1200-25_1200-24del
NM_001370335.1:c.1200-25_1200-24del	NP_001357264.1:n.1200-25_1200-24del
NM_001370336.1:c.1179-25_1179-24del	NP_001357265.1:n.1179-25_1179-24del
NM_172058.4:c.1200-25_1200-24del	NP_742055.1:n.1200-25_1200-24del
NM_172059.5:c.1182-25_1182-24del	NP_742056.2:n.1182-25_1182-24del