Canonical Allele Identifier: CA10634633
Gene: PAX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.31811301del , CM000673.2:g.31811301del GRCh38
NC_000011.9:g.31832849del , CM000673.1:g.31832849del GRCh37
NC_000011.8:g.31789425del NCBI36
NG_008679.1:g.11663del , LRG_720:g.11663del

Transcript Alleles

HGVS Amino-acid Change
NM_001368894.2:c.-501del MANE Select NP_001355823.1:n.-501del
ENST00000640368.2:c.-501del MANE Select ENSP00000492024.1:n.-501del
NM_000280.4:c.-501del NP_000271.1:n.-501del
NM_000280.6:c.-501del NP_000271.1:n.-501del
NM_001127612.1:c.-316-284del NP_001121084.1:n.-316-284del
NM_001127612.2:c.-316-284del NP_001121084.1:n.-316-284del
NM_001127612.3:c.-316-284del NP_001121084.1:n.-316-284del
NM_001258462.1:c.-316-284del NP_001245391.1:n.-316-284del
NM_001258462.2:c.-316-284del NP_001245391.1:n.-316-284del
NM_001258462.3:c.-316-284del NP_001245391.1:n.-316-284del
NM_001258463.1:c.-316-284del NP_001245392.1:n.-316-284del
NM_001258463.2:c.-316-284del NP_001245392.1:n.-316-284del
NM_001258464.1:c.-403del NP_001245393.1:n.-403del
NM_001258464.2:c.-403del NP_001245393.1:n.-403del
NM_001310158.1:c.-316-284del NP_001297087.1:n.-316-284del
NM_001310158.2:c.-316-284del NP_001297087.1:n.-316-284del
NM_001368887.1:c.-316-284del NP_001355816.1:n.-316-284del
NM_001368887.2:c.-316-284del NP_001355816.1:n.-316-284del
NM_001368888.1:c.-316-284del NP_001355817.1:n.-316-284del
NM_001368888.2:c.-316-284del NP_001355817.1:n.-316-284del
NM_001368890.1:c.-316-284del NP_001355819.1:n.-316-284del
NM_001368890.2:c.-316-284del NP_001355819.1:n.-316-284del
NM_001368893.1:c.-473del NP_001355822.1:n.-473del
NM_001368893.2:c.-473del NP_001355822.1:n.-473del
NM_001368894.1:c.-501del NP_001355823.1:n.-501del
NM_001368910.1:c.-401del NP_001355839.1:n.-401del
NM_001368910.2:c.-401del NP_001355839.1:n.-401del
NM_001368912.1:c.-501del NP_001355841.1:n.-501del
NM_001368912.2:c.-501del NP_001355841.1:n.-501del
NM_001368914.1:c.-403del NP_001355843.1:n.-403del
NM_001368914.2:c.-403del NP_001355843.1:n.-403del
NM_001368915.1:c.-316-284del NP_001355844.1:n.-316-284del
NM_001368915.2:c.-316-284del NP_001355844.1:n.-316-284del
NM_001368917.1:c.-501del NP_001355846.1:n.-501del
NM_001368917.2:c.-501del NP_001355846.1:n.-501del
NM_001368919.1:c.-316-284del NP_001355848.1:n.-316-284del
NM_001368919.2:c.-316-284del NP_001355848.1:n.-316-284del
NM_001368921.1:c.-316-284del NP_001355850.1:n.-316-284del
NM_001368921.2:c.-316-284del NP_001355850.1:n.-316-284del
NM_001368922.1:c.-503del NP_001355851.1:n.-503del
NM_001368922.2:c.-503del NP_001355851.1:n.-503del
NM_001368923.1:c.-316-284del NP_001355852.1:n.-316-284del
NM_001368923.2:c.-316-284del NP_001355852.1:n.-316-284del
NM_001368926.1:c.-403del NP_001355855.1:n.-403del
NM_001368926.2:c.-403del NP_001355855.1:n.-403del
NM_001368927.1:c.-501del NP_001355856.1:n.-501del
NM_001368927.2:c.-501del NP_001355856.1:n.-501del
NM_001604.5:c.-403del NP_001595.2:n.-403del
NM_001604.6:c.-403del NP_001595.2:n.-403del
NR_160917.1:n.154-284del
NR_160917.2:n.154-284del
ENST00000241001.13:c.-316-284del ENSP00000241001.8:n.-316-284del
ENST00000379111.7:c.-316-284del ENSP00000368406.3:n.-316-284del
ENST00000379115.8:c.-403del ENSP00000368410.4:n.-403del
ENST00000379115.9:c.-501del ENSP00000368410.5:n.-501del
ENST00000379123.10:c.-1052del ENSP00000368418.6:n.-1052del
ENST00000379123.9:c.-501del ENSP00000368418.5:n.-501del
ENST00000379129.6:c.-128-4374del ENSP00000368424.2:n.-128-4374del
ENST00000379129.7:c.-128-4374del ENSP00000368424.2:n.-128-4374del
ENST00000379132.7:c.-128-4374del ENSP00000368427.2:n.-128-4374del
ENST00000379132.8:c.-128-4374del ENSP00000368427.2:n.-128-4374del
ENST00000419022.5:c.-316-284del ENSP00000404100.1:n.-316-284del
ENST00000419022.6:c.-403del ENSP00000404100.1:n.-403del
ENST00000423822.6:c.-316-284del ENSP00000388132.2:n.-316-284del
ENST00000423822.7:c.-316-284del ENSP00000388132.3:n.-316-284del
ENST00000455099.6:c.-317+229del ENSP00000397384.2:n.-317+229del
ENST00000464174.5:n.129+6510del
ENST00000474783.2:n.30del
ENST00000524853.5:c.-316-284del ENSP00000431585.1:n.-316-284del
ENST00000524853.6:c.-316-284del ENSP00000431585.2:n.-316-284del
ENST00000525535.1:c.-316-284del ENSP00000436365.1:n.-316-284del
ENST00000525535.2:c.-129+794del ENSP00000436365.2:n.-129+794del
ENST00000532175.5:n.141-284del
ENST00000533333.5:n.10del
ENST00000606377.5:c.-316-284del ENSP00000480026.1:n.-316-284del
ENST00000638685.1:c.-129+794del ENSP00000492316.1:n.-129+794del
ENST00000638913.1:n.43del
ENST00000638914.3:c.-316-284del ENSP00000492315.2:n.-316-284del
ENST00000638965.1:c.-81+6510del ENSP00000492769.1:n.-81+6510del
ENST00000639034.2:c.-501del ENSP00000491679.1:n.-501del
ENST00000639203.1:n.251-48del
ENST00000639409.1:c.-316-284del ENSP00000492476.1:n.-316-284del
ENST00000639950.1:c.-316-284del ENSP00000491862.1:n.-316-284del
ENST00000640172.1:n.33del
ENST00000640431.1:c.-316-284del ENSP00000491779.1:n.-316-284del
ENST00000640610.1:c.-403del ENSP00000491295.1:n.-403del
ENST00000640819.1:n.254-284del
ENST00000640975.1:c.-316-284del ENSP00000491872.1:n.-316-284del
ENST00000643871.1:c.-501del ENSP00000495109.1:n.-501del
XM_005252955.3:c.-316-284del XP_005253012.1:n.-316-284del
XM_011520149.1:c.-316-284del XP_011518451.1:n.-316-284del