Canonical Allele Identifier: CA1094668862

Linked Data

dbSNP Id: rs1800841562

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.133528857_133528859del , CM000668.2:g.133528857_133528859del GRCh38
NC_000006.11:g.133849995_133849997del , CM000668.1:g.133849995_133849997del GRCh37
NC_000006.10:g.133891688_133891690del NCBI36
NG_011596.1:g.292501_292503del
NG_011596.2:g.292501_292503del

Transcript Alleles

HGVS Amino-acid Change
ENST00000525849.7:c.*52_*54del (EYA4) ENSP00000433219.1:n.*52_*54del
ENST00000706301.1:c.*52_*54del (EYA4) ENSP00000516341.1:n.*52_*54del
ENST00000355167.8:c.*52_*54del (EYA4) ENSP00000347294.4:n.*52_*54del
ENST00000683325.1:c.*4154_*4156del (EYA4) ENSP00000508141.1:n.*4154_*4156del
ENST00000355286.12:c.*52_*54del (EYA4) MANE Select ENSP00000347434.7:n.*52_*54del
ENST00000431403.3:c.*52_*54del (EYA4) ENSP00000404558.3:n.*52_*54del
ENST00000525849.6:c.*52_*54del (EYA4) ENSP00000433219.1:n.*52_*54del
ENST00000355167.7:c.*52_*54del (EYA4) ENSP00000347294.3:n.*52_*54del
ENST00000355286.10:c.*52_*54del (EYA4) ENSP00000347434.6:n.*52_*54del
ENST00000367895.9:c.*52_*54del (EYA4) ENSP00000356870.5:n.*52_*54del
ENST00000430974.6:c.1696-2352_1696-2350del (EYA4) ENSP00000388670.2:n.1696-2352_1696-2350del
ENST00000431403.2:c.1972_1974del (EYA4) ENSP00000404558.2:n.1972_1974del
ENST00000452339.6:c.*52_*54del (EYA4) ENSP00000395916.2:n.*52_*54del
ENST00000525849.5:c.*52_*54del (EYA4) ENSP00000433219.1:n.*52_*54del
ENST00000531901.5:c.*52_*54del (EYA4) ENSP00000432770.1:n.*52_*54del
NM_001301012.1:c.*52_*54del (EYA4) NP_001287941.1:n.*52_*54del
NM_001301013.1:c.*52_*54del (EYA4) NP_001287942.1:n.*52_*54del
NM_004100.4:c.*52_*54del (EYA4) NP_004091.3:n.*52_*54del
NM_172103.3:c.*52_*54del (EYA4) NP_742101.2:n.*52_*54del
NM_172105.3:c.*52_*54del (EYA4) NP_742103.1:n.*52_*54del
NR_109982.1:n.2285+6923_2285+6925del (TARID)
XM_005266851.3:c.*52_*54del (EYA4) XP_005266908.1:n.*52_*54del
XM_005266853.3:c.*52_*54del (EYA4) XP_005266910.1:n.*52_*54del
XM_011535540.1:c.1922_1924del (EYA4) XP_011533842.1:p.Phe641del
XM_011535541.1:c.1907_1909del (EYA4) XP_011533843.1:p.Phe636del
XM_011535542.1:c.1829_1831del (EYA4) XP_011533844.1:p.Phe610del
XM_005266851.5:c.*52_*54del (EYA4) XP_005266908.1:n.*52_*54del
XM_005266853.5:c.*52_*54del (EYA4) XP_005266910.1:n.*52_*54del
XM_017010368.2:c.*3495_*3497del (EYA4) XP_016865857.1:n.*3495_*3497del
XM_017010369.2:c.*3495_*3497del (EYA4) XP_016865858.1:n.*3495_*3497del
XM_017010370.2:c.*3495_*3497del (EYA4) XP_016865859.1:n.*3495_*3497del
XM_017010371.2:c.*3495_*3497del (EYA4) XP_016865860.1:n.*3495_*3497del
XM_017010372.2:c.*3495_*3497del (EYA4) XP_016865861.1:n.*3495_*3497del
XM_017010373.2:c.*3495_*3497del (EYA4) XP_016865862.1:n.*3495_*3497del
XM_017010374.2:c.*52_*54del (EYA4) XP_016865863.1:n.*52_*54del
XM_017010375.1:c.*52_*54del (EYA4) XP_016865864.1:n.*52_*54del
XR_001743220.2:n.5675_5677del (EYA4)
NM_004100.5:c.*52_*54del (EYA4) MANE Select NP_004091.3:n.*52_*54del
NM_001370458.1:c.*52_*54del (EYA4) NP_001357387.1:n.*52_*54del
NM_001370459.1:c.*52_*54del (EYA4) NP_001357388.1:n.*52_*54del
NM_001301012.2:c.*52_*54del (EYA4) NP_001287941.1:n.*52_*54del
NM_001301013.2:c.*52_*54del (EYA4) NP_001287942.1:n.*52_*54del
NM_172103.4:c.*52_*54del (EYA4) NP_742101.2:n.*52_*54del
NM_172105.4:c.*52_*54del (EYA4) NP_742103.1:n.*52_*54del