Canonical Allele Identifier: CA2623558901

Gene: PCCA

Linked Data

• gnomAD v4: 13-100301648-A-AGTCATGAGACCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100301651_100301663dup , CM000675.2:g.100301651_100301663dup	GRCh38
NC_000013.10:g.100953905_100953917dup , CM000675.1:g.100953905_100953917dup	GRCh37
NC_000013.9:g.99751906_99751918dup	NCBI36
NG_008768.1:g.217569_217581dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1209+48_1209+60dup MANE Select	ENSP00000365462.1:n.1209+48_1209+60dup
ENST00000636366.1:c.944+28305_944+28317dup
ENST00000636420.1:c.1088+48_1088+60dup
ENST00000636475.1:c.944+28305_944+28317dup
ENST00000637657.1:c.945-5541_945-5529dup
ENST00000647303.1:c.*913+28305_*913+28317dup	ENSP00000495663.1:n.*913+28305_*913+28317dup
ENST00000376279.7:c.1209+48_1209+60dup	ENSP00000365456.3:n.1209+48_1209+60dup
ENST00000376285.5:c.1209+48_1209+60dup	ENSP00000365462.1:n.1209+48_1209+60dup
ENST00000376286.8:c.1131+48_1131+60dup	ENSP00000365463.4:n.1131+48_1131+60dup
ENST00000424527.5:c.31+8397_31+8409dup	ENSP00000396050.1:n.31+8397_31+8409dup
NM_000282.3:c.1209+48_1209+60dup	NP_000273.2:n.1209+48_1209+60dup
NM_001127692.2:c.1131+48_1131+60dup	NP_001121164.1:n.1131+48_1131+60dup
NM_001178004.1:c.1209+48_1209+60dup	NP_001171475.1:n.1209+48_1209+60dup
XM_005254059.2:c.1209+48_1209+60dup	XP_005254116.1:n.1209+48_1209+60dup
XM_011521093.1:c.1209+48_1209+60dup	XP_011519395.1:n.1209+48_1209+60dup
XR_931615.1:n.1310+48_1310+60dup
XR_931616.1:n.1310+48_1310+60dup
NM_001352605.1:c.1209+48_1209+60dup	NP_001339534.1:n.1209+48_1209+60dup
NM_001352606.1:c.1066-1273_1066-1261dup	NP_001339535.1:n.1066-1273_1066-1261dup
NM_001352607.1:c.1131+48_1131+60dup	NP_001339536.1:n.1131+48_1131+60dup
NM_001352608.1:c.988-1273_988-1261dup	NP_001339537.1:n.988-1273_988-1261dup
NM_001352609.1:c.1209+48_1209+60dup	NP_001339538.1:n.1209+48_1209+60dup
NM_001352610.1:c.264+48_264+60dup	NP_001339539.1:n.264+48_264+60dup
NM_001352611.1:c.264+48_264+60dup	NP_001339540.1:n.264+48_264+60dup
NM_001352612.1:c.121-1273_121-1261dup	NP_001339541.1:n.121-1273_121-1261dup
NR_148027.1:n.1315+48_1315+60dup
NR_148028.1:n.1315+48_1315+60dup
NR_148029.1:n.1237+48_1237+60dup
NR_148030.1:n.1315+48_1315+60dup
NR_148031.1:n.1315+48_1315+60dup
XM_017020605.1:c.1209+48_1209+60dup	XP_016876094.1:n.1209+48_1209+60dup
XM_017020606.1:c.1131+48_1131+60dup	XP_016876095.1:n.1131+48_1131+60dup
XM_017020607.1:c.1110+48_1110+60dup	XP_016876096.1:n.1110+48_1110+60dup
XM_017020609.1:c.1110+48_1110+60dup	XP_016876098.1:n.1110+48_1110+60dup
XM_017020611.1:c.1209+48_1209+60dup	XP_016876100.1:n.1209+48_1209+60dup
XM_017020612.1:c.1209+48_1209+60dup	XP_016876101.1:n.1209+48_1209+60dup
XM_017020613.1:c.1209+48_1209+60dup	XP_016876102.1:n.1209+48_1209+60dup
XM_017020615.1:c.1209+48_1209+60dup	XP_016876104.1:n.1209+48_1209+60dup
XM_017020616.1:c.1209+48_1209+60dup	XP_016876105.1:n.1209+48_1209+60dup
XR_001749567.1:n.1310+48_1310+60dup
XR_001749568.1:n.1310+48_1310+60dup
XR_001749569.1:n.1310+48_1310+60dup
XR_001749574.1:n.1161+48_1161+60dup
XR_001749576.1:n.1166+28305_1166+28317dup
XR_001749577.1:n.1166+28305_1166+28317dup
NM_000282.4:c.1209+48_1209+60dup MANE Select	NP_000273.2:n.1209+48_1209+60dup
NM_001352605.2:c.1209+48_1209+60dup	NP_001339534.1:n.1209+48_1209+60dup
NM_001352606.2:c.1066-1273_1066-1261dup	NP_001339535.1:n.1066-1273_1066-1261dup
NM_001352607.2:c.1131+48_1131+60dup	NP_001339536.1:n.1131+48_1131+60dup
NM_001352608.2:c.988-1273_988-1261dup	NP_001339537.1:n.988-1273_988-1261dup
NM_001352609.2:c.1209+48_1209+60dup	NP_001339538.1:n.1209+48_1209+60dup
NM_001352610.2:c.264+48_264+60dup	NP_001339539.1:n.264+48_264+60dup
NM_001352611.2:c.264+48_264+60dup	NP_001339540.1:n.264+48_264+60dup
NM_001352612.2:c.121-1273_121-1261dup	NP_001339541.1:n.121-1273_121-1261dup
NR_148027.2:n.1237+48_1237+60dup
NR_148028.2:n.1237+48_1237+60dup
NR_148029.2:n.1159+48_1159+60dup
NR_148030.2:n.1237+48_1237+60dup
NR_148031.2:n.1237+48_1237+60dup
NM_001127692.3:c.1131+48_1131+60dup	NP_001121164.1:n.1131+48_1131+60dup
NM_001178004.2:c.1209+48_1209+60dup	NP_001171475.1:n.1209+48_1209+60dup