Canonical Allele Identifier: CA1665027939

Gene: EYA4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133481638_133481640delinsTTA , CM000668.2:g.133481638_133481640delinsTTA	GRCh38
NC_000006.11:g.133802776_133802778delinsTTA , CM000668.1:g.133802776_133802778delinsTTA	GRCh37
NC_000006.10:g.133844469_133844471delinsTTA	NCBI36
NG_011596.1:g.245282_245284delinsTTA
NG_011596.2:g.245282_245284delinsTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000525849.7:c.1038+39_1038+41delinsTTA	ENSP00000433219.1:n.1038+39_1038+41delinsTTA
ENST00000706301.1:c.945+39_945+41delinsTTA	ENSP00000516341.1:n.945+39_945+41delinsTTA
ENST00000355167.8:c.963+39_963+41delinsTTA	ENSP00000347294.4:n.963+39_963+41delinsTTA
ENST00000683325.1:c.630+39_630+41delinsTTA	ENSP00000508141.1:n.630+39_630+41delinsTTA
ENST00000683674.1:n.8+39_8+41delinsTTA
ENST00000684773.1:c.630+39_630+41delinsTTA	ENSP00000506812.1:n.630+39_630+41delinsTTA
ENST00000355286.12:c.1107+39_1107+41delinsTTA MANE Select	ENSP00000347434.7:n.1107+39_1107+41delinsTTA
ENST00000431403.3:c.1038+39_1038+41delinsTTA	ENSP00000404558.3:n.1038+39_1038+41delinsTTA
ENST00000525849.6:c.1038+39_1038+41delinsTTA	ENSP00000433219.1:n.1038+39_1038+41delinsTTA
ENST00000355167.7:c.1107+39_1107+41delinsTTA	ENSP00000347294.3:n.1107+39_1107+41delinsTTA
ENST00000355286.10:c.1038+39_1038+41delinsTTA	ENSP00000347434.6:n.1038+39_1038+41delinsTTA
ENST00000367895.9:c.1107+39_1107+41delinsTTA	ENSP00000356870.5:n.1107+39_1107+41delinsTTA
ENST00000430974.6:c.963+39_963+41delinsTTA	ENSP00000388670.2:n.963+39_963+41delinsTTA
ENST00000431403.2:c.1107+39_1107+41delinsTTA	ENSP00000404558.2:n.1107+39_1107+41delinsTTA
ENST00000452339.6:c.945+39_945+41delinsTTA	ENSP00000395916.2:n.945+39_945+41delinsTTA
ENST00000525849.5:c.1038+39_1038+41delinsTTA	ENSP00000433219.1:n.1038+39_1038+41delinsTTA
ENST00000531861.5:n.1107+39_1107+41delinsTTA
ENST00000531901.5:c.1125+39_1125+41delinsTTA	ENSP00000432770.1:n.1125+39_1125+41delinsTTA
ENST00000532518.1:n.453+39_453+41delinsTTA
NM_001301012.1:c.945+39_945+41delinsTTA	NP_001287941.1:n.945+39_945+41delinsTTA
NM_001301013.1:c.1125+39_1125+41delinsTTA	NP_001287942.1:n.1125+39_1125+41delinsTTA
NM_004100.4:c.1107+39_1107+41delinsTTA	NP_004091.3:n.1107+39_1107+41delinsTTA
NM_172103.3:c.1038+39_1038+41delinsTTA	NP_742101.2:n.1038+39_1038+41delinsTTA
NM_172105.3:c.1107+39_1107+41delinsTTA	NP_742103.1:n.1107+39_1107+41delinsTTA
XM_005266851.3:c.1125+39_1125+41delinsTTA	XP_005266908.1:n.1125+39_1125+41delinsTTA
XM_005266852.3:c.1125+39_1125+41delinsTTA	XP_005266909.1:n.1125+39_1125+41delinsTTA
XM_005266853.3:c.1038+39_1038+41delinsTTA	XP_005266910.1:n.1038+39_1038+41delinsTTA
XM_011535540.1:c.1056+39_1056+41delinsTTA	XP_011533842.1:n.1056+39_1056+41delinsTTA
XM_011535541.1:c.1041+39_1041+41delinsTTA	XP_011533843.1:n.1041+39_1041+41delinsTTA
XM_011535542.1:c.963+39_963+41delinsTTA	XP_011533844.1:n.963+39_963+41delinsTTA
XM_005266851.5:c.1125+39_1125+41delinsTTA	XP_005266908.1:n.1125+39_1125+41delinsTTA
XM_005266853.5:c.1038+39_1038+41delinsTTA	XP_005266910.1:n.1038+39_1038+41delinsTTA
XM_017010368.2:c.1125+39_1125+41delinsTTA	XP_016865857.1:n.1125+39_1125+41delinsTTA
XM_017010369.2:c.1107+39_1107+41delinsTTA	XP_016865858.1:n.1107+39_1107+41delinsTTA
XM_017010370.2:c.1056+39_1056+41delinsTTA	XP_016865859.1:n.1056+39_1056+41delinsTTA
XM_017010371.2:c.1041+39_1041+41delinsTTA	XP_016865860.1:n.1041+39_1041+41delinsTTA
XM_017010372.2:c.963+39_963+41delinsTTA	XP_016865861.1:n.963+39_963+41delinsTTA
XM_017010373.2:c.945+39_945+41delinsTTA	XP_016865862.1:n.945+39_945+41delinsTTA
XM_017010374.2:c.963+39_963+41delinsTTA	XP_016865863.1:n.963+39_963+41delinsTTA
XM_017010375.1:c.963+39_963+41delinsTTA	XP_016865864.1:n.963+39_963+41delinsTTA
XR_001743219.2:n.1287+39_1287+41delinsTTA
XR_001743220.2:n.1269+39_1269+41delinsTTA
NM_004100.5:c.1107+39_1107+41delinsTTA MANE Select	NP_004091.3:n.1107+39_1107+41delinsTTA
NM_001370458.1:c.1038+39_1038+41delinsTTA	NP_001357387.1:n.1038+39_1038+41delinsTTA
NM_001370459.1:c.963+39_963+41delinsTTA	NP_001357388.1:n.963+39_963+41delinsTTA
NM_001301012.2:c.945+39_945+41delinsTTA	NP_001287941.1:n.945+39_945+41delinsTTA
NM_001301013.2:c.1125+39_1125+41delinsTTA	NP_001287942.1:n.1125+39_1125+41delinsTTA
NM_172103.4:c.1038+39_1038+41delinsTTA	NP_742101.2:n.1038+39_1038+41delinsTTA
NM_172105.4:c.1107+39_1107+41delinsTTA	NP_742103.1:n.1107+39_1107+41delinsTTA