Canonical Allele Identifier: CA2623558888

Gene: PCCA

Linked Data

• gnomAD v4: 13-100301606-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100301606_100301607insC , CM000675.2:g.100301606_100301607insC	GRCh38
NC_000013.10:g.100953860_100953861insC , CM000675.1:g.100953860_100953861insC	GRCh37
NC_000013.9:g.99751861_99751862insC	NCBI36
NG_008768.1:g.217524_217525insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1209+3_1209+4insC MANE Select	ENSP00000365462.1:n.1209+3_1209+4insC
ENST00000636366.1:c.944+28260_944+28261insC
ENST00000636420.1:c.1088+3_1088+4insC
ENST00000636475.1:c.944+28260_944+28261insC
ENST00000637657.1:c.945-5586_945-5585insC
ENST00000647303.1:c.*913+28260_*913+28261insC	ENSP00000495663.1:n.*913+28260_*913+28261insC
ENST00000376279.7:c.1209+3_1209+4insC	ENSP00000365456.3:n.1209+3_1209+4insC
ENST00000376285.5:c.1209+3_1209+4insC	ENSP00000365462.1:n.1209+3_1209+4insC
ENST00000376286.8:c.1131+3_1131+4insC	ENSP00000365463.4:n.1131+3_1131+4insC
ENST00000424527.5:c.31+8352_31+8353insC	ENSP00000396050.1:n.31+8352_31+8353insC
NM_000282.3:c.1209+3_1209+4insC	NP_000273.2:n.1209+3_1209+4insC
NM_001127692.2:c.1131+3_1131+4insC	NP_001121164.1:n.1131+3_1131+4insC
NM_001178004.1:c.1209+3_1209+4insC	NP_001171475.1:n.1209+3_1209+4insC
XM_005254059.2:c.1209+3_1209+4insC	XP_005254116.1:n.1209+3_1209+4insC
XM_011521093.1:c.1209+3_1209+4insC	XP_011519395.1:n.1209+3_1209+4insC
XR_931615.1:n.1310+3_1310+4insC
XR_931616.1:n.1310+3_1310+4insC
NM_001352605.1:c.1209+3_1209+4insC	NP_001339534.1:n.1209+3_1209+4insC
NM_001352606.1:c.1066-1318_1066-1317insC	NP_001339535.1:n.1066-1318_1066-1317insC
NM_001352607.1:c.1131+3_1131+4insC	NP_001339536.1:n.1131+3_1131+4insC
NM_001352608.1:c.988-1318_988-1317insC	NP_001339537.1:n.988-1318_988-1317insC
NM_001352609.1:c.1209+3_1209+4insC	NP_001339538.1:n.1209+3_1209+4insC
NM_001352610.1:c.264+3_264+4insC	NP_001339539.1:n.264+3_264+4insC
NM_001352611.1:c.264+3_264+4insC	NP_001339540.1:n.264+3_264+4insC
NM_001352612.1:c.121-1318_121-1317insC	NP_001339541.1:n.121-1318_121-1317insC
NR_148027.1:n.1315+3_1315+4insC
NR_148028.1:n.1315+3_1315+4insC
NR_148029.1:n.1237+3_1237+4insC
NR_148030.1:n.1315+3_1315+4insC
NR_148031.1:n.1315+3_1315+4insC
XM_017020605.1:c.1209+3_1209+4insC	XP_016876094.1:n.1209+3_1209+4insC
XM_017020606.1:c.1131+3_1131+4insC	XP_016876095.1:n.1131+3_1131+4insC
XM_017020607.1:c.1110+3_1110+4insC	XP_016876096.1:n.1110+3_1110+4insC
XM_017020609.1:c.1110+3_1110+4insC	XP_016876098.1:n.1110+3_1110+4insC
XM_017020611.1:c.1209+3_1209+4insC	XP_016876100.1:n.1209+3_1209+4insC
XM_017020612.1:c.1209+3_1209+4insC	XP_016876101.1:n.1209+3_1209+4insC
XM_017020613.1:c.1209+3_1209+4insC	XP_016876102.1:n.1209+3_1209+4insC
XM_017020615.1:c.1209+3_1209+4insC	XP_016876104.1:n.1209+3_1209+4insC
XM_017020616.1:c.1209+3_1209+4insC	XP_016876105.1:n.1209+3_1209+4insC
XR_001749567.1:n.1310+3_1310+4insC
XR_001749568.1:n.1310+3_1310+4insC
XR_001749569.1:n.1310+3_1310+4insC
XR_001749574.1:n.1161+3_1161+4insC
XR_001749576.1:n.1166+28260_1166+28261insC
XR_001749577.1:n.1166+28260_1166+28261insC
NM_000282.4:c.1209+3_1209+4insC MANE Select	NP_000273.2:n.1209+3_1209+4insC
NM_001352605.2:c.1209+3_1209+4insC	NP_001339534.1:n.1209+3_1209+4insC
NM_001352606.2:c.1066-1318_1066-1317insC	NP_001339535.1:n.1066-1318_1066-1317insC
NM_001352607.2:c.1131+3_1131+4insC	NP_001339536.1:n.1131+3_1131+4insC
NM_001352608.2:c.988-1318_988-1317insC	NP_001339537.1:n.988-1318_988-1317insC
NM_001352609.2:c.1209+3_1209+4insC	NP_001339538.1:n.1209+3_1209+4insC
NM_001352610.2:c.264+3_264+4insC	NP_001339539.1:n.264+3_264+4insC
NM_001352611.2:c.264+3_264+4insC	NP_001339540.1:n.264+3_264+4insC
NM_001352612.2:c.121-1318_121-1317insC	NP_001339541.1:n.121-1318_121-1317insC
NR_148027.2:n.1237+3_1237+4insC
NR_148028.2:n.1237+3_1237+4insC
NR_148029.2:n.1159+3_1159+4insC
NR_148030.2:n.1237+3_1237+4insC
NR_148031.2:n.1237+3_1237+4insC
NM_001127692.3:c.1131+3_1131+4insC	NP_001121164.1:n.1131+3_1131+4insC
NM_001178004.2:c.1209+3_1209+4insC	NP_001171475.1:n.1209+3_1209+4insC