Canonical Allele Identifier: CA1664989227

Gene: EYA4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133452323_133452325delinsCTA , CM000668.2:g.133452323_133452325delinsCTA	GRCh38
NC_000006.11:g.133773461_133773463delinsCTA , CM000668.1:g.133773461_133773463delinsCTA	GRCh37
NC_000006.10:g.133815154_133815156delinsCTA	NCBI36
NG_011596.1:g.215967_215969delinsCTA
NG_011596.2:g.215967_215969delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525849.7:c.209-4233_209-4231delinsCTA	ENSP00000433219.1:n.209-4233_209-4231delinsCTA
ENST00000706301.1:c.208+5569_208+5571delinsCTA	ENSP00000516341.1:n.208+5569_208+5571delinsCTA
ENST00000355167.8:c.208+5569_208+5571delinsCTA	ENSP00000347294.4:n.208+5569_208+5571delinsCTA
ENST00000683664.1:n.244-4233_244-4231delinsCTA
ENST00000684773.1:c.-200-4233_-200-4231delinsCTA	ENSP00000506812.1:n.-200-4233_-200-4231delinsCTA
ENST00000355286.12:c.277+4144_277+4146delinsCTA MANE Select	ENSP00000347434.7:n.277+4144_277+4146delinsCTA
ENST00000431403.3:c.209-4233_209-4231delinsCTA	ENSP00000404558.3:n.209-4233_209-4231delinsCTA
ENST00000525614.2:n.545+5569_545+5571delinsCTA
ENST00000525849.6:c.209-4233_209-4231delinsCTA	ENSP00000433219.1:n.209-4233_209-4231delinsCTA
ENST00000355167.7:c.277+4144_277+4146delinsCTA	ENSP00000347294.3:n.277+4144_277+4146delinsCTA
ENST00000355286.10:c.209-4233_209-4231delinsCTA	ENSP00000347434.6:n.209-4233_209-4231delinsCTA
ENST00000367895.9:c.277+4144_277+4146delinsCTA	ENSP00000356870.5:n.277+4144_277+4146delinsCTA
ENST00000421413.6:n.380-4233_380-4231delinsCTA
ENST00000430974.6:c.208+5569_208+5571delinsCTA	ENSP00000388670.2:n.208+5569_208+5571delinsCTA
ENST00000431403.2:c.277+4144_277+4146delinsCTA	ENSP00000404558.2:n.277+4144_277+4146delinsCTA
ENST00000452339.6:c.208+5569_208+5571delinsCTA	ENSP00000395916.2:n.208+5569_208+5571delinsCTA
ENST00000525614.1:n.545+5569_545+5571delinsCTA
ENST00000525849.5:c.209-4233_209-4231delinsCTA	ENSP00000433219.1:n.209-4233_209-4231delinsCTA
ENST00000531861.5:n.277+4144_277+4146delinsCTA
ENST00000531901.5:c.277+4144_277+4146delinsCTA	ENSP00000432770.1:n.277+4144_277+4146delinsCTA
NM_001301012.1:c.208+5569_208+5571delinsCTA	NP_001287941.1:n.208+5569_208+5571delinsCTA
NM_001301013.1:c.277+4144_277+4146delinsCTA	NP_001287942.1:n.277+4144_277+4146delinsCTA
NM_004100.4:c.277+4144_277+4146delinsCTA	NP_004091.3:n.277+4144_277+4146delinsCTA
NM_172103.3:c.209-4233_209-4231delinsCTA	NP_742101.2:n.209-4233_209-4231delinsCTA
NM_172105.3:c.277+4144_277+4146delinsCTA	NP_742103.1:n.277+4144_277+4146delinsCTA
XM_005266851.3:c.277+4144_277+4146delinsCTA	XP_005266908.1:n.277+4144_277+4146delinsCTA
XM_005266852.3:c.277+4144_277+4146delinsCTA	XP_005266909.1:n.277+4144_277+4146delinsCTA
XM_005266853.3:c.209-4233_209-4231delinsCTA	XP_005266910.1:n.209-4233_209-4231delinsCTA
XM_011535540.1:c.209-4233_209-4231delinsCTA	XP_011533842.1:n.209-4233_209-4231delinsCTA
XM_011535541.1:c.209-4248_209-4246delinsCTA	XP_011533843.1:n.209-4248_209-4246delinsCTA
XM_011535542.1:c.208+5569_208+5571delinsCTA	XP_011533844.1:n.208+5569_208+5571delinsCTA
XM_005266851.5:c.277+4144_277+4146delinsCTA	XP_005266908.1:n.277+4144_277+4146delinsCTA
XM_005266853.5:c.209-4233_209-4231delinsCTA	XP_005266910.1:n.209-4233_209-4231delinsCTA
XM_017010368.2:c.277+4144_277+4146delinsCTA	XP_016865857.1:n.277+4144_277+4146delinsCTA
XM_017010369.2:c.277+4144_277+4146delinsCTA	XP_016865858.1:n.277+4144_277+4146delinsCTA
XM_017010370.2:c.209-4233_209-4231delinsCTA	XP_016865859.1:n.209-4233_209-4231delinsCTA
XM_017010371.2:c.209-4248_209-4246delinsCTA	XP_016865860.1:n.209-4248_209-4246delinsCTA
XM_017010372.2:c.208+5569_208+5571delinsCTA	XP_016865861.1:n.208+5569_208+5571delinsCTA
XM_017010373.2:c.208+5569_208+5571delinsCTA	XP_016865862.1:n.208+5569_208+5571delinsCTA
XM_017010374.2:c.208+5569_208+5571delinsCTA	XP_016865863.1:n.208+5569_208+5571delinsCTA
XM_017010375.1:c.208+5569_208+5571delinsCTA	XP_016865864.1:n.208+5569_208+5571delinsCTA
XR_001743219.2:n.439+4144_439+4146delinsCTA
XR_001743220.2:n.439+4144_439+4146delinsCTA
NM_004100.5:c.277+4144_277+4146delinsCTA MANE Select	NP_004091.3:n.277+4144_277+4146delinsCTA
NM_001370458.1:c.209-4233_209-4231delinsCTA	NP_001357387.1:n.209-4233_209-4231delinsCTA
NM_001370459.1:c.208+5569_208+5571delinsCTA	NP_001357388.1:n.208+5569_208+5571delinsCTA
NM_001301012.2:c.208+5569_208+5571delinsCTA	NP_001287941.1:n.208+5569_208+5571delinsCTA
NM_001301013.2:c.277+4144_277+4146delinsCTA	NP_001287942.1:n.277+4144_277+4146delinsCTA
NM_172103.4:c.209-4233_209-4231delinsCTA	NP_742101.2:n.209-4233_209-4231delinsCTA
NM_172105.4:c.277+4144_277+4146delinsCTA	NP_742103.1:n.277+4144_277+4146delinsCTA