Canonical Allele Identifier: CA148042656

Gene: EYA4

Linked Data

• dbSNP Id: rs55937594
• gnomAD v2: 6-133773583-CAG-C
• gnomAD v3: 6-133452445-CAG-C
• gnomAD v4: 6-133452445-CAG-C
• MyVariant Identifiers: chr6:g.133773584_133773585del (hg19) ; chr6:g.133452446_133452447del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133452447_133452448del , CM000668.2:g.133452447_133452448del	GRCh38
NC_000006.11:g.133773585_133773586del , CM000668.1:g.133773585_133773586del	GRCh37
NC_000006.10:g.133815278_133815279del	NCBI36
NG_011596.1:g.216091_216092del
NG_011596.2:g.216091_216092del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525849.7:c.209-4109_209-4108del	ENSP00000433219.1:n.209-4109_209-4108del
ENST00000706301.1:c.208+5693_208+5694del	ENSP00000516341.1:n.208+5693_208+5694del
ENST00000355167.8:c.208+5693_208+5694del	ENSP00000347294.4:n.208+5693_208+5694del
ENST00000683664.1:n.244-4109_244-4108del
ENST00000684773.1:c.-200-4109_-200-4108del	ENSP00000506812.1:n.-200-4109_-200-4108de...
ENST00000355286.12:c.278-4109_278-4108del MANE Select	ENSP00000347434.7:n.278-4109_278-4108del
ENST00000431403.3:c.209-4109_209-4108del	ENSP00000404558.3:n.209-4109_209-4108del
ENST00000525614.2:n.545+5693_545+5694del
ENST00000525849.6:c.209-4109_209-4108del	ENSP00000433219.1:n.209-4109_209-4108del
ENST00000355167.7:c.278-4109_278-4108del	ENSP00000347294.3:n.278-4109_278-4108del
ENST00000355286.10:c.209-4109_209-4108del	ENSP00000347434.6:n.209-4109_209-4108del
ENST00000367895.9:c.278-4109_278-4108del	ENSP00000356870.5:n.278-4109_278-4108del
ENST00000421413.6:n.380-4109_380-4108del
ENST00000430974.6:c.208+5693_208+5694del	ENSP00000388670.2:n.208+5693_208+5694del
ENST00000431403.2:c.278-4109_278-4108del	ENSP00000404558.2:n.278-4109_278-4108del
ENST00000452339.6:c.208+5693_208+5694del	ENSP00000395916.2:n.208+5693_208+5694del
ENST00000525614.1:n.545+5693_545+5694del
ENST00000525849.5:c.209-4109_209-4108del	ENSP00000433219.1:n.209-4109_209-4108del
ENST00000531861.5:n.278-4109_278-4108del
ENST00000531901.5:c.278-4109_278-4108del	ENSP00000432770.1:n.278-4109_278-4108del
NM_001301012.1:c.208+5693_208+5694del	NP_001287941.1:n.208+5693_208+5694del
NM_001301013.1:c.278-4109_278-4108del	NP_001287942.1:n.278-4109_278-4108del
NM_004100.4:c.278-4109_278-4108del	NP_004091.3:n.278-4109_278-4108del
NM_172103.3:c.209-4109_209-4108del	NP_742101.2:n.209-4109_209-4108del
NM_172105.3:c.278-4109_278-4108del	NP_742103.1:n.278-4109_278-4108del
XM_005266851.3:c.278-4109_278-4108del	XP_005266908.1:n.278-4109_278-4108del
XM_005266852.3:c.278-4109_278-4108del	XP_005266909.1:n.278-4109_278-4108del
XM_005266853.3:c.209-4109_209-4108del	XP_005266910.1:n.209-4109_209-4108del
XM_011535540.1:c.209-4109_209-4108del	XP_011533842.1:n.209-4109_209-4108del
XM_011535541.1:c.209-4124_209-4123del	XP_011533843.1:n.209-4124_209-4123del
XM_011535542.1:c.208+5693_208+5694del	XP_011533844.1:n.208+5693_208+5694del
XM_005266851.5:c.278-4109_278-4108del	XP_005266908.1:n.278-4109_278-4108del
XM_005266853.5:c.209-4109_209-4108del	XP_005266910.1:n.209-4109_209-4108del
XM_017010368.2:c.278-4109_278-4108del	XP_016865857.1:n.278-4109_278-4108del
XM_017010369.2:c.278-4109_278-4108del	XP_016865858.1:n.278-4109_278-4108del
XM_017010370.2:c.209-4109_209-4108del	XP_016865859.1:n.209-4109_209-4108del
XM_017010371.2:c.209-4124_209-4123del	XP_016865860.1:n.209-4124_209-4123del
XM_017010372.2:c.208+5693_208+5694del	XP_016865861.1:n.208+5693_208+5694del
XM_017010373.2:c.208+5693_208+5694del	XP_016865862.1:n.208+5693_208+5694del
XM_017010374.2:c.208+5693_208+5694del	XP_016865863.1:n.208+5693_208+5694del
XM_017010375.1:c.208+5693_208+5694del	XP_016865864.1:n.208+5693_208+5694del
XR_001743219.2:n.440-4109_440-4108del
XR_001743220.2:n.440-4109_440-4108del
NM_004100.5:c.278-4109_278-4108del MANE Select	NP_004091.3:n.278-4109_278-4108del
NM_001370458.1:c.209-4109_209-4108del	NP_001357387.1:n.209-4109_209-4108del
NM_001370459.1:c.208+5693_208+5694del	NP_001357388.1:n.208+5693_208+5694del
NM_001301012.2:c.208+5693_208+5694del	NP_001287941.1:n.208+5693_208+5694del
NM_001301013.2:c.278-4109_278-4108del	NP_001287942.1:n.278-4109_278-4108del
NM_172103.4:c.209-4109_209-4108del	NP_742101.2:n.209-4109_209-4108del
NM_172105.4:c.278-4109_278-4108del	NP_742103.1:n.278-4109_278-4108del