Canonical Allele Identifier: CA2623556529
Gene: PCCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100157341_100157342insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT , CM000675.2:g.100157341_100157342insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT GRCh38
NC_000013.10:g.100809595_100809596insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT , CM000675.1:g.100809595_100809596insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT GRCh37
NC_000013.9:g.99607596_99607597insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NCBI36
NG_008768.1:g.73259_73260insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000376285.6:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT MANE Select ENSP00000365462.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGAC...
ENST00000636366.1:c.347+1_347+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
ENST00000636420.1:c.347+1_347+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
ENST00000636475.1:c.347+1_347+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
ENST00000637358.1:c.347+1_347+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
ENST00000637657.1:c.347+1_347+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
ENST00000647303.1:c.*316+1_*316+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT ENSP00000495663.1:n.*316+1_*316+2insCAGCAGAAGATGCCGTTTTCATTGG...
ENST00000376279.7:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT ENSP00000365456.3:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGAC...
ENST00000376285.5:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT ENSP00000365462.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGAC...
ENST00000376286.8:c.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT ENSP00000365463.4:n.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGAC...
ENST00000485946.1:n.836+1_836+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NM_000282.3:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_000273.2:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACA...
NM_001127692.2:c.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001121164.1:n.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001178004.1:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001171475.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XM_005254059.2:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT XP_005254116.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XM_011521093.1:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT XP_011519395.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XR_931615.1:n.569+1_569+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
XR_931616.1:n.569+1_569+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NM_001352605.1:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339534.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001352606.1:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339535.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001352607.1:c.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339536.1:n.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001352608.1:c.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339537.1:n.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001352609.1:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339538.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001352610.1:c.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339539.1:n.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACC...
NM_001352611.1:c.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339540.1:n.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACC...
NM_001352612.1:c.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339541.1:n.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACC...
NR_148027.1:n.574+1_574+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NR_148028.1:n.574+1_574+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NR_148029.1:n.496+1_496+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NR_148030.1:n.574+1_574+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NR_148031.1:n.574+1_574+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
XM_017020605.1:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT XP_016876094.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XM_017020606.1:c.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT XP_016876095.1:n.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XM_017020607.1:c.369+1_369+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT XP_016876096.1:n.369+1_369+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XM_017020609.1:c.369+1_369+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT XP_016876098.1:n.369+1_369+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XM_017020611.1:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT XP_016876100.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XM_017020612.1:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT XP_016876101.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XM_017020613.1:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT XP_016876102.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XM_017020615.1:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT XP_016876104.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XM_017020616.1:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT XP_016876105.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
XR_001749567.1:n.569+1_569+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
XR_001749568.1:n.569+1_569+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
XR_001749569.1:n.569+1_569+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
XR_001749574.1:n.420+1_420+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
XR_001749576.1:n.569+1_569+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
XR_001749577.1:n.569+1_569+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NM_000282.4:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT MANE Select NP_000273.2:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACA...
NM_001352605.2:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339534.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001352606.2:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339535.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001352607.2:c.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339536.1:n.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001352608.2:c.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339537.1:n.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001352609.2:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339538.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001352610.2:c.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339539.1:n.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACC...
NM_001352611.2:c.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339540.1:n.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACC...
NM_001352612.2:c.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001339541.1:n.-399+1_-399+2insCAGCAGAAGATGCCGTTTTCATTGGACC...
NR_148027.2:n.496+1_496+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NR_148028.2:n.496+1_496+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NR_148029.2:n.418+1_418+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NR_148030.2:n.496+1_496+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NR_148031.2:n.496+1_496+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT
NM_001127692.3:c.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001121164.1:n.390+1_390+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...
NM_001178004.2:c.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTGACACACATGCTAT NP_001171475.1:n.468+1_468+2insCAGCAGAAGATGCCGTTTTCATTGGACCTG...