Canonical Allele Identifier: CA2113958774
Gene: PCCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100157314_100157315delinsGA , CM000675.2:g.100157314_100157315delinsGA GRCh38
NC_000013.10:g.100809568_100809569delinsGA , CM000675.1:g.100809568_100809569delinsGA GRCh37
NC_000013.9:g.99607569_99607570delinsGA NCBI36
NG_008768.1:g.73232_73233delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000376285.6:c.442_443delinsGA MANE Select ENSP00000365462.1:p.Glu148=
ENST00000636366.1:c.321_322delinsGA
ENST00000636420.1:c.321_322delinsGA
ENST00000636475.1:c.321_322delinsGA
ENST00000637358.1:c.321_322delinsGA
ENST00000637657.1:c.321_322delinsGA
ENST00000647303.1:c.*290_*291delinsGA ENSP00000495663.1:n.*290_*291delinsGA
ENST00000376279.7:c.442_443delinsGA ENSP00000365456.3:p.Glu148=
ENST00000376285.5:c.442_443delinsGA ENSP00000365462.1:p.Glu148=
ENST00000376286.8:c.364_365delinsGA ENSP00000365463.4:p.Glu122=
ENST00000485946.1:n.810_811delinsGA
NM_000282.3:c.442_443delinsGA NP_000273.2:p.Glu148=
NM_001127692.2:c.364_365delinsGA NP_001121164.1:p.Glu122=
NM_001178004.1:c.442_443delinsGA NP_001171475.1:p.Glu148=
XM_005254059.2:c.442_443delinsGA XP_005254116.1:p.Glu148=
XM_011521093.1:c.442_443delinsGA XP_011519395.1:p.Glu148=
XR_931615.1:n.543_544delinsGA
XR_931616.1:n.543_544delinsGA
NM_001352605.1:c.442_443delinsGA NP_001339534.1:p.Glu148=
NM_001352606.1:c.442_443delinsGA NP_001339535.1:p.Glu148=
NM_001352607.1:c.364_365delinsGA NP_001339536.1:p.Glu122=
NM_001352608.1:c.364_365delinsGA NP_001339537.1:p.Glu122=
NM_001352609.1:c.442_443delinsGA NP_001339538.1:p.Glu148=
NM_001352610.1:c.-425_-424delinsGA NP_001339539.1:n.-425_-424delinsGA
NM_001352611.1:c.-425_-424delinsGA NP_001339540.1:n.-425_-424delinsGA
NM_001352612.1:c.-425_-424delinsGA NP_001339541.1:n.-425_-424delinsGA
NR_148027.1:n.548_549delinsGA
NR_148028.1:n.548_549delinsGA
NR_148029.1:n.470_471delinsGA
NR_148030.1:n.548_549delinsGA
NR_148031.1:n.548_549delinsGA
XM_017020605.1:c.442_443delinsGA XP_016876094.1:p.Glu148=
XM_017020606.1:c.364_365delinsGA XP_016876095.1:p.Glu122=
XM_017020607.1:c.343_344delinsGA XP_016876096.1:p.Glu115=
XM_017020609.1:c.343_344delinsGA XP_016876098.1:p.Glu115=
XM_017020611.1:c.442_443delinsGA XP_016876100.1:p.Glu148=
XM_017020612.1:c.442_443delinsGA XP_016876101.1:p.Glu148=
XM_017020613.1:c.442_443delinsGA XP_016876102.1:p.Glu148=
XM_017020615.1:c.442_443delinsGA XP_016876104.1:p.Glu148=
XM_017020616.1:c.442_443delinsGA XP_016876105.1:p.Glu148=
XR_001749567.1:n.543_544delinsGA
XR_001749568.1:n.543_544delinsGA
XR_001749569.1:n.543_544delinsGA
XR_001749574.1:n.394_395delinsGA
XR_001749576.1:n.543_544delinsGA
XR_001749577.1:n.543_544delinsGA
NM_000282.4:c.442_443delinsGA MANE Select NP_000273.2:p.Glu148=
NM_001352605.2:c.442_443delinsGA NP_001339534.1:p.Glu148=
NM_001352606.2:c.442_443delinsGA NP_001339535.1:p.Glu148=
NM_001352607.2:c.364_365delinsGA NP_001339536.1:p.Glu122=
NM_001352608.2:c.364_365delinsGA NP_001339537.1:p.Glu122=
NM_001352609.2:c.442_443delinsGA NP_001339538.1:p.Glu148=
NM_001352610.2:c.-425_-424delinsGA NP_001339539.1:n.-425_-424delinsGA
NM_001352611.2:c.-425_-424delinsGA NP_001339540.1:n.-425_-424delinsGA
NM_001352612.2:c.-425_-424delinsGA NP_001339541.1:n.-425_-424delinsGA
NR_148027.2:n.470_471delinsGA
NR_148028.2:n.470_471delinsGA
NR_148029.2:n.392_393delinsGA
NR_148030.2:n.470_471delinsGA
NR_148031.2:n.470_471delinsGA
NM_001127692.3:c.364_365delinsGA NP_001121164.1:p.Glu122=
NM_001178004.2:c.442_443delinsGA NP_001171475.1:p.Glu148=