Canonical Allele Identifier: CA2697551954

Gene: PCCA

Linked Data

• ClinVar Variation Id: 2749726
• ClinVar RCV Id: RCV003511687

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100309897_100309898del , CM000675.2:g.100309897_100309898del	GRCh38
NC_000013.10:g.100962151_100962152del , CM000675.1:g.100962151_100962152del	GRCh37
NC_000013.9:g.99760152_99760153del	NCBI36
NG_008768.1:g.225815_225816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1418_1419del MANE Select	ENSP00000365462.1:p.Tyr473CysfsTer8
ENST00000636366.1:c.944+36551_944+36552del
ENST00000636420.1:c.1295_1296del
ENST00000636475.1:c.945-20664_945-20663del
ENST00000637657.1:c.1078_1079del
ENST00000647303.1:c.*914-20664_*914-20663del	ENSP00000495663.1:n.*914-20664_*914-20663del
ENST00000376279.7:c.1418_1419del	ENSP00000365456.3:p.Tyr473CysfsTer8
ENST00000376285.5:c.1418_1419del	ENSP00000365462.1:p.Tyr473CysfsTer8
ENST00000376286.8:c.1340_1341del	ENSP00000365463.4:p.Tyr447CysfsTer8
ENST00000424527.5:c.31+16643_31+16644del	ENSP00000396050.1:n.31+16643_31+16644del
ENST00000443601.1:c.193_194del
NM_000282.3:c.1418_1419del	NP_000273.2:p.Tyr473CysfsTer8
NM_001127692.2:c.1340_1341del	NP_001121164.1:p.Tyr447CysfsTer8
NM_001178004.1:c.1418_1419del	NP_001171475.1:p.Tyr473CysfsTer8
XM_005254059.2:c.1418_1419del	XP_005254116.1:p.Tyr473CysfsTer8
XM_011521093.1:c.1418_1419del	XP_011519395.1:p.Tyr473CysfsTer8
XR_931615.1:n.1519_1520del
NM_001352605.1:c.1418_1419del	NP_001339534.1:p.Tyr473CysfsTer8
NM_001352606.1:c.1274_1275del	NP_001339535.1:p.Tyr425CysfsTer8
NM_001352607.1:c.1340_1341del	NP_001339536.1:p.Tyr447CysfsTer8
NM_001352608.1:c.1196_1197del	NP_001339537.1:p.Tyr399CysfsTer8
NM_001352609.1:c.1418_1419del	NP_001339538.1:p.Tyr473CysfsTer8
NM_001352610.1:c.473_474del	NP_001339539.1:p.Tyr158CysfsTer8
NM_001352611.1:c.473_474del	NP_001339540.1:p.Tyr158CysfsTer8
NM_001352612.1:c.329_330del	NP_001339541.1:p.Tyr110CysfsTer8
NR_148027.1:n.1608_1609del
NR_148028.1:n.1608_1609del
NR_148029.1:n.1530_1531del
NR_148030.1:n.1608_1609del
NR_148031.1:n.1524_1525del
XM_017020605.1:c.1418_1419del	XP_016876094.1:p.Tyr473CysfsTer8
XM_017020606.1:c.1340_1341del	XP_016876095.1:p.Tyr447CysfsTer8
XM_017020607.1:c.1319_1320del	XP_016876096.1:p.Tyr440CysfsTer8
XM_017020609.1:c.1319_1320del	XP_016876098.1:p.Tyr440CysfsTer8
XM_017020611.1:c.1418_1419del	XP_016876100.1:p.Tyr473CysfsTer8
XM_017020612.1:c.1418_1419del	XP_016876101.1:p.Tyr473CysfsTer8
XM_017020613.1:c.1418_1419del	XP_016876102.1:p.Tyr473CysfsTer8
XM_017020615.1:c.1418_1419del	XP_016876104.1:p.Tyr473CysfsTer8
XM_017020616.1:c.1418_1419del	XP_016876105.1:p.Tyr473CysfsTer8
XR_001749567.1:n.1519_1520del
XR_001749568.1:n.1519_1520del
XR_001749569.1:n.1519_1520del
XR_001749574.1:n.1454_1455del
XR_001749576.1:n.1167-20664_1167-20663del
XR_001749577.1:n.1167-20664_1167-20663del
NM_000282.4:c.1418_1419del MANE Select	NP_000273.2:p.Tyr473CysfsTer8
NM_001352605.2:c.1418_1419del	NP_001339534.1:p.Tyr473CysfsTer8
NM_001352606.2:c.1274_1275del	NP_001339535.1:p.Tyr425CysfsTer8
NM_001352607.2:c.1340_1341del	NP_001339536.1:p.Tyr447CysfsTer8
NM_001352608.2:c.1196_1197del	NP_001339537.1:p.Tyr399CysfsTer8
NM_001352609.2:c.1418_1419del	NP_001339538.1:p.Tyr473CysfsTer8
NM_001352610.2:c.473_474del	NP_001339539.1:p.Tyr158CysfsTer8
NM_001352611.2:c.473_474del	NP_001339540.1:p.Tyr158CysfsTer8
NM_001352612.2:c.329_330del	NP_001339541.1:p.Tyr110CysfsTer8
NR_148027.2:n.1530_1531del
NR_148028.2:n.1530_1531del
NR_148029.2:n.1452_1453del
NR_148030.2:n.1530_1531del
NR_148031.2:n.1446_1447del
NM_001127692.3:c.1340_1341del	NP_001121164.1:p.Tyr447CysfsTer8
NM_001178004.2:c.1418_1419del	NP_001171475.1:p.Tyr473CysfsTer8