Canonical Allele Identifier: CA4008530

Gene: EYA4 TARID

Linked Data

• dbSNP Id: rs768043447
• ExAC: 6:133849986 C / CA
• gnomAD v2: 6-133849986-C-CA
• gnomAD v3: 6-133528848-C-CA
• gnomAD v4: 6-133528848-C-CA
• MyVariant Identifiers: chr6:g.133849986_133849987insA (hg19) ; chr6:g.133528848_133528849insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133528849dup , CM000668.2:g.133528849dup	GRCh38
NC_000006.11:g.133849987dup , CM000668.1:g.133849987dup	GRCh37
NC_000006.10:g.133891680dup	NCBI36
NG_011596.1:g.292493dup
NG_011596.2:g.292493dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525849.7:c.*44dup (EYA4)	ENSP00000433219.1:n.*44dup
ENST00000706301.1:c.*44dup (EYA4)	ENSP00000516341.1:n.*44dup
ENST00000355167.8:c.*44dup (EYA4)	ENSP00000347294.4:n.*44dup
ENST00000683325.1:c.*4146dup (EYA4)	ENSP00000508141.1:n.*4146dup
ENST00000355286.12:c.*44dup (EYA4) MANE Select	ENSP00000347434.7:n.*44dup
ENST00000431403.3:c.*44dup (EYA4)	ENSP00000404558.3:n.*44dup
ENST00000525849.6:c.*44dup (EYA4)	ENSP00000433219.1:n.*44dup
ENST00000355167.7:c.*44dup (EYA4)	ENSP00000347294.3:n.*44dup
ENST00000355286.10:c.*44dup (EYA4)	ENSP00000347434.6:n.*44dup
ENST00000367895.9:c.*44dup (EYA4)	ENSP00000356870.5:n.*44dup
ENST00000430974.6:c.1696-2360dup (EYA4)	ENSP00000388670.2:n.1696-2360dup
ENST00000431403.2:c.1964dup (EYA4)	ENSP00000404558.2:n.1964dup
ENST00000452339.6:c.*44dup (EYA4)	ENSP00000395916.2:n.*44dup
ENST00000525849.5:c.*44dup (EYA4)	ENSP00000433219.1:n.*44dup
ENST00000531901.5:c.*44dup (EYA4)	ENSP00000432770.1:n.*44dup
NM_001301012.1:c.*44dup (EYA4)	NP_001287941.1:n.*44dup
NM_001301013.1:c.*44dup (EYA4)	NP_001287942.1:n.*44dup
NM_004100.4:c.*44dup (EYA4)	NP_004091.3:n.*44dup
NM_172103.3:c.*44dup (EYA4)	NP_742101.2:n.*44dup
NM_172105.3:c.*44dup (EYA4)	NP_742103.1:n.*44dup
NR_109982.1:n.2285+6931dup (TARID)
XM_005266851.3:c.*44dup (EYA4)	XP_005266908.1:n.*44dup
XM_005266853.3:c.*44dup (EYA4)	XP_005266910.1:n.*44dup
XM_011535540.1:c.1914dup (EYA4)	XP_011533842.1:p.Leu639ThrfsTer19
XM_011535541.1:c.1899dup (EYA4)	XP_011533843.1:p.Leu634ThrfsTer19
XM_011535542.1:c.1821dup (EYA4)	XP_011533844.1:p.Leu608ThrfsTer19
XM_005266851.5:c.*44dup (EYA4)	XP_005266908.1:n.*44dup
XM_005266853.5:c.*44dup (EYA4)	XP_005266910.1:n.*44dup
XM_017010368.2:c.*3487dup (EYA4)	XP_016865857.1:n.*3487dup
XM_017010369.2:c.*3487dup (EYA4)	XP_016865858.1:n.*3487dup
XM_017010370.2:c.*3487dup (EYA4)	XP_016865859.1:n.*3487dup
XM_017010371.2:c.*3487dup (EYA4)	XP_016865860.1:n.*3487dup
XM_017010372.2:c.*3487dup (EYA4)	XP_016865861.1:n.*3487dup
XM_017010373.2:c.*3487dup (EYA4)	XP_016865862.1:n.*3487dup
XM_017010374.2:c.*44dup (EYA4)	XP_016865863.1:n.*44dup
XM_017010375.1:c.*44dup (EYA4)	XP_016865864.1:n.*44dup
XR_001743220.2:n.5667dup (EYA4)
NM_004100.5:c.*44dup (EYA4) MANE Select	NP_004091.3:n.*44dup
NM_001370458.1:c.*44dup (EYA4)	NP_001357387.1:n.*44dup
NM_001370459.1:c.*44dup (EYA4)	NP_001357388.1:n.*44dup
NM_001301012.2:c.*44dup (EYA4)	NP_001287941.1:n.*44dup
NM_001301013.2:c.*44dup (EYA4)	NP_001287942.1:n.*44dup
NM_172103.4:c.*44dup (EYA4)	NP_742101.2:n.*44dup
NM_172105.4:c.*44dup (EYA4)	NP_742103.1:n.*44dup