Canonical Allele Identifier: CA2687599301

Gene: EYA1

Linked Data

• gnomAD v4: 8-71211050-TTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71211054_71211056del , CM000670.2:g.71211054_71211056del	GRCh38
NC_000008.10:g.72123289_72123291del , CM000670.1:g.72123289_72123291del	GRCh37
NC_000008.9:g.72285843_72285845del	NCBI36
NG_011735.2:g.156180_156182del
NG_011735.3:g.342078_342080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1698+103_1698+105del MANE Select	ENSP00000342626.3:n.1698+103_1698+105del
ENST00000388741.7:c.1596+103_1596+105del	ENSP00000373393.2:n.1596+103_1596+105del
ENST00000419131.6:c.1593+103_1593+105del	ENSP00000410176.1:n.1593+103_1593+105del
ENST00000465115.6:c.*977+103_*977+105del	ENSP00000428391.1:n.*977+103_*977+105del
ENST00000496494.6:n.2161+103_2161+105del
ENST00000642391.1:c.*1375+103_*1375+105del	ENSP00000496700.1:n.*1375+103_*1375+105del
ENST00000643681.1:c.1785+103_1785+105del	ENSP00000495390.1:n.1785+103_1785+105del
ENST00000644229.1:c.1680+103_1680+105del	ENSP00000494568.1:n.1680+103_1680+105del
ENST00000644424.1:n.768+103_768+105del
ENST00000644712.1:c.1677+103_1677+105del	ENSP00000496188.1:n.1677+103_1677+105del
ENST00000645793.1:c.1698+103_1698+105del	ENSP00000496255.1:n.1698+103_1698+105del
ENST00000647540.1:c.1698+103_1698+105del	ENSP00000494438.1:n.1698+103_1698+105del
ENST00000303824.11:c.1680+103_1680+105del	ENSP00000303221.7:n.1680+103_1680+105del
ENST00000340726.7:c.1698+103_1698+105del	ENSP00000342626.3:n.1698+103_1698+105del
ENST00000388740.4:c.1599+103_1599+105del	ENSP00000373392.3:n.1599+103_1599+105del
ENST00000388741.6:c.1596+103_1596+105del	ENSP00000373393.2:n.1596+103_1596+105del
ENST00000388742.8:c.1698+103_1698+105del	ENSP00000373394.4:n.1698+103_1698+105del
ENST00000388743.6:c.1695+103_1695+105del	ENSP00000373395.2:n.1695+103_1695+105del
ENST00000419131.5:c.1593+103_1593+105del	ENSP00000410176.1:n.1593+103_1593+105del
ENST00000465115.5:c.*977+103_*977+105del	ENSP00000428391.1:n.*977+103_*977+105del
ENST00000496494.5:n.2193+103_2193+105del
NM_000503.5:c.1698+103_1698+105del	NP_000494.2:n.1698+103_1698+105del
NM_001288574.1:c.1680+103_1680+105del	NP_001275503.1:n.1680+103_1680+105del
NM_001288575.1:c.1332+103_1332+105del	NP_001275504.1:n.1332+103_1332+105del
NM_172058.3:c.1698+103_1698+105del	NP_742055.1:n.1698+103_1698+105del
NM_172059.3:c.1593+103_1593+105del	NP_742056.1:n.1593+103_1593+105del
NM_172060.3:c.1599+103_1599+105del	NP_742057.1:n.1599+103_1599+105del
XM_011517481.1:c.1769+104_1769+106del	XP_011515783.1:n.1769+104_1769+106del
XM_011517482.1:c.1784+104_1784+106del	XP_011515784.1:n.1784+104_1784+106del
XM_011517483.1:c.1695+103_1695+105del	XP_011515785.1:n.1695+103_1695+105del
XM_011517484.1:c.1683+103_1683+105del	XP_011515786.1:n.1683+103_1683+105del
XM_011517485.1:c.1697+104_1697+106del	XP_011515787.1:n.1697+104_1697+106del
XM_011517486.1:c.1697+104_1697+106del	XP_011515788.1:n.1697+104_1697+106del
XM_011517487.1:c.1697+104_1697+106del	XP_011515789.1:n.1697+104_1697+106del
XM_011517488.1:c.1694+104_1694+106del	XP_011515790.1:n.1694+104_1694+106del
XM_011517489.1:c.1634+104_1634+106del	XP_011515791.1:n.1634+104_1634+106del
XM_011517490.1:c.1598+104_1598+106del	XP_011515792.1:n.1598+104_1598+106del
XM_011517491.1:c.1598+104_1598+106del	XP_011515793.1:n.1598+104_1598+106del
XM_011517492.1:c.1346+104_1346+106del	XP_011515794.1:n.1346+104_1346+106del
NM_172059.4:c.1680+103_1680+105del	NP_742056.2:n.1680+103_1680+105del
XM_011517483.2:c.1695+103_1695+105del	XP_011515785.1:n.1695+103_1695+105del
XM_011517484.3:c.1770+103_1770+105del	XP_011515786.2:n.1770+103_1770+105del
XM_017013201.1:c.1785+103_1785+105del	XP_016868690.1:n.1785+103_1785+105del
XM_017013202.1:c.1785+103_1785+105del	XP_016868691.1:n.1785+103_1785+105del
XM_017013203.2:c.1782+103_1782+105del	XP_016868692.1:n.1782+103_1782+105del
XM_017013204.2:c.1767+103_1767+105del	XP_016868693.1:n.1767+103_1767+105del
XM_017013205.2:c.1785+103_1785+105del	XP_016868694.1:n.1785+103_1785+105del
XM_017013206.1:c.1698+103_1698+105del	XP_016868695.1:n.1698+103_1698+105del
XM_017013207.2:c.1695+103_1695+105del	XP_016868696.1:n.1695+103_1695+105del
XM_017013208.2:c.1695+103_1695+105del	XP_016868697.1:n.1695+103_1695+105del
XM_017013210.2:c.1677+103_1677+105del	XP_016868699.1:n.1677+103_1677+105del
XM_017013211.2:c.1635+103_1635+105del	XP_016868700.1:n.1635+103_1635+105del
XM_017013212.2:c.1599+103_1599+105del	XP_016868701.1:n.1599+103_1599+105del
XM_017013213.1:c.1347+103_1347+105del	XP_016868702.1:n.1347+103_1347+105del
NM_000503.6:c.1698+103_1698+105del MANE Select	NP_000494.2:n.1698+103_1698+105del
NM_001288574.2:c.1680+103_1680+105del	NP_001275503.1:n.1680+103_1680+105del
NM_001288575.2:c.1332+103_1332+105del	NP_001275504.1:n.1332+103_1332+105del
NM_001370333.1:c.1785+103_1785+105del	NP_001357262.1:n.1785+103_1785+105del
NM_001370334.1:c.1698+103_1698+105del	NP_001357263.1:n.1698+103_1698+105del
NM_001370335.1:c.1698+103_1698+105del	NP_001357264.1:n.1698+103_1698+105del
NM_001370336.1:c.1677+103_1677+105del	NP_001357265.1:n.1677+103_1677+105del
NM_172058.4:c.1698+103_1698+105del	NP_742055.1:n.1698+103_1698+105del
NM_172059.5:c.1680+103_1680+105del	NP_742056.2:n.1680+103_1680+105del