Canonical Allele Identifier: CA2800349293

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100301674_100301675insCACCCAACAC , CM000675.2:g.100301674_100301675insCACCCAACAC	GRCh38
NC_000013.10:g.100953928_100953929insCACCCAACAC , CM000675.1:g.100953928_100953929insCACCCAACAC	GRCh37
NC_000013.9:g.99751929_99751930insCACCCAACAC	NCBI36
NG_008768.1:g.217592_217593insCACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1209+71_1209+72insCACCCAACAC MANE Select	ENSP00000365462.1:n.1209+71_1209+72insCACCCAACAC
ENST00000636366.1:c.944+28328_944+28329insCACCCAACAC
ENST00000636420.1:c.1088+71_1088+72insCACCCAACAC
ENST00000636475.1:c.944+28328_944+28329insCACCCAACAC
ENST00000637657.1:c.945-5518_945-5517insCACCCAACAC
ENST00000647303.1:c.*913+28328_*913+28329insCACCCAACAC	ENSP00000495663.1:n.*913+28328_*913+28329insCACCCAACAC
ENST00000376279.7:c.1209+71_1209+72insCACCCAACAC	ENSP00000365456.3:n.1209+71_1209+72insCACCCAACAC
ENST00000376285.5:c.1209+71_1209+72insCACCCAACAC	ENSP00000365462.1:n.1209+71_1209+72insCACCCAACAC
ENST00000376286.8:c.1131+71_1131+72insCACCCAACAC	ENSP00000365463.4:n.1131+71_1131+72insCACCCAACAC
ENST00000424527.5:c.31+8420_31+8421insCACCCAACAC	ENSP00000396050.1:n.31+8420_31+8421insCACCCAACAC
NM_000282.3:c.1209+71_1209+72insCACCCAACAC	NP_000273.2:n.1209+71_1209+72insCACCCAACAC
NM_001127692.2:c.1131+71_1131+72insCACCCAACAC	NP_001121164.1:n.1131+71_1131+72insCACCCAACAC
NM_001178004.1:c.1209+71_1209+72insCACCCAACAC	NP_001171475.1:n.1209+71_1209+72insCACCCAACAC
XM_005254059.2:c.1209+71_1209+72insCACCCAACAC	XP_005254116.1:n.1209+71_1209+72insCACCCAACAC
XM_011521093.1:c.1209+71_1209+72insCACCCAACAC	XP_011519395.1:n.1209+71_1209+72insCACCCAACAC
XR_931615.1:n.1310+71_1310+72insCACCCAACAC
XR_931616.1:n.1310+71_1310+72insCACCCAACAC
NM_001352605.1:c.1209+71_1209+72insCACCCAACAC	NP_001339534.1:n.1209+71_1209+72insCACCCAACAC
NM_001352606.1:c.1066-1250_1066-1249insCACCCAACAC	NP_001339535.1:n.1066-1250_1066-1249insCACCCAACAC
NM_001352607.1:c.1131+71_1131+72insCACCCAACAC	NP_001339536.1:n.1131+71_1131+72insCACCCAACAC
NM_001352608.1:c.988-1250_988-1249insCACCCAACAC	NP_001339537.1:n.988-1250_988-1249insCACCCAACAC
NM_001352609.1:c.1209+71_1209+72insCACCCAACAC	NP_001339538.1:n.1209+71_1209+72insCACCCAACAC
NM_001352610.1:c.264+71_264+72insCACCCAACAC	NP_001339539.1:n.264+71_264+72insCACCCAACAC
NM_001352611.1:c.264+71_264+72insCACCCAACAC	NP_001339540.1:n.264+71_264+72insCACCCAACAC
NM_001352612.1:c.121-1250_121-1249insCACCCAACAC	NP_001339541.1:n.121-1250_121-1249insCACCCAACAC
NR_148027.1:n.1315+71_1315+72insCACCCAACAC
NR_148028.1:n.1315+71_1315+72insCACCCAACAC
NR_148029.1:n.1237+71_1237+72insCACCCAACAC
NR_148030.1:n.1315+71_1315+72insCACCCAACAC
NR_148031.1:n.1315+71_1315+72insCACCCAACAC
XM_017020605.1:c.1209+71_1209+72insCACCCAACAC	XP_016876094.1:n.1209+71_1209+72insCACCCAACAC
XM_017020606.1:c.1131+71_1131+72insCACCCAACAC	XP_016876095.1:n.1131+71_1131+72insCACCCAACAC
XM_017020607.1:c.1110+71_1110+72insCACCCAACAC	XP_016876096.1:n.1110+71_1110+72insCACCCAACAC
XM_017020609.1:c.1110+71_1110+72insCACCCAACAC	XP_016876098.1:n.1110+71_1110+72insCACCCAACAC
XM_017020611.1:c.1209+71_1209+72insCACCCAACAC	XP_016876100.1:n.1209+71_1209+72insCACCCAACAC
XM_017020612.1:c.1209+71_1209+72insCACCCAACAC	XP_016876101.1:n.1209+71_1209+72insCACCCAACAC
XM_017020613.1:c.1209+71_1209+72insCACCCAACAC	XP_016876102.1:n.1209+71_1209+72insCACCCAACAC
XM_017020615.1:c.1209+71_1209+72insCACCCAACAC	XP_016876104.1:n.1209+71_1209+72insCACCCAACAC
XM_017020616.1:c.1209+71_1209+72insCACCCAACAC	XP_016876105.1:n.1209+71_1209+72insCACCCAACAC
XR_001749567.1:n.1310+71_1310+72insCACCCAACAC
XR_001749568.1:n.1310+71_1310+72insCACCCAACAC
XR_001749569.1:n.1310+71_1310+72insCACCCAACAC
XR_001749574.1:n.1161+71_1161+72insCACCCAACAC
XR_001749576.1:n.1166+28328_1166+28329insCACCCAACAC
XR_001749577.1:n.1166+28328_1166+28329insCACCCAACAC
NM_000282.4:c.1209+71_1209+72insCACCCAACAC MANE Select	NP_000273.2:n.1209+71_1209+72insCACCCAACAC
NM_001352605.2:c.1209+71_1209+72insCACCCAACAC	NP_001339534.1:n.1209+71_1209+72insCACCCAACAC
NM_001352606.2:c.1066-1250_1066-1249insCACCCAACAC	NP_001339535.1:n.1066-1250_1066-1249insCACCCAACAC
NM_001352607.2:c.1131+71_1131+72insCACCCAACAC	NP_001339536.1:n.1131+71_1131+72insCACCCAACAC
NM_001352608.2:c.988-1250_988-1249insCACCCAACAC	NP_001339537.1:n.988-1250_988-1249insCACCCAACAC
NM_001352609.2:c.1209+71_1209+72insCACCCAACAC	NP_001339538.1:n.1209+71_1209+72insCACCCAACAC
NM_001352610.2:c.264+71_264+72insCACCCAACAC	NP_001339539.1:n.264+71_264+72insCACCCAACAC
NM_001352611.2:c.264+71_264+72insCACCCAACAC	NP_001339540.1:n.264+71_264+72insCACCCAACAC
NM_001352612.2:c.121-1250_121-1249insCACCCAACAC	NP_001339541.1:n.121-1250_121-1249insCACCCAACAC
NR_148027.2:n.1237+71_1237+72insCACCCAACAC
NR_148028.2:n.1237+71_1237+72insCACCCAACAC
NR_148029.2:n.1159+71_1159+72insCACCCAACAC
NR_148030.2:n.1237+71_1237+72insCACCCAACAC
NR_148031.2:n.1237+71_1237+72insCACCCAACAC
NM_001127692.3:c.1131+71_1131+72insCACCCAACAC	NP_001121164.1:n.1131+71_1131+72insCACCCAACAC
NM_001178004.2:c.1209+71_1209+72insCACCCAACAC	NP_001171475.1:n.1209+71_1209+72insCACCCAACAC