Canonical Allele Identifier: CA2575446584

Gene: PCCA

Linked Data

• ClinVar Variation Id: 2715389
• ClinVar RCV Id: RCV003513185
• gnomAD v4: 13-100262798-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100262801del , CM000675.2:g.100262801del	GRCh38
NC_000013.10:g.100915055del , CM000675.1:g.100915055del	GRCh37
NC_000013.9:g.99713056del	NCBI36
NG_008768.1:g.178719del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.789del MANE Select	ENSP00000365462.1:p.Phe263LeufsTer8
ENST00000636366.1:c.668del
ENST00000636420.1:c.668del
ENST00000636475.1:c.668del
ENST00000637657.1:c.668del
ENST00000647303.1:c.*637del	ENSP00000495663.1:n.*637del
ENST00000376279.7:c.789del	ENSP00000365456.3:p.Phe263LeufsTer8
ENST00000376285.5:c.789del	ENSP00000365462.1:p.Phe263LeufsTer8
ENST00000376286.8:c.711del	ENSP00000365463.4:p.Phe237LeufsTer8
NM_000282.3:c.789del	NP_000273.2:p.Phe263LeufsTer8
NM_001127692.2:c.711del	NP_001121164.1:p.Phe237LeufsTer8
NM_001178004.1:c.789del	NP_001171475.1:p.Phe263LeufsTer8
XM_005254059.2:c.789del	XP_005254116.1:p.Phe263LeufsTer8
XM_011521093.1:c.789del	XP_011519395.1:p.Phe263LeufsTer8
XR_931615.1:n.890del
XR_931616.1:n.890del
NM_001352605.1:c.789del	NP_001339534.1:p.Phe263LeufsTer8
NM_001352606.1:c.789del	NP_001339535.1:p.Phe263LeufsTer8
NM_001352607.1:c.711del	NP_001339536.1:p.Phe237LeufsTer8
NM_001352608.1:c.711del	NP_001339537.1:p.Phe237LeufsTer8
NM_001352609.1:c.789del	NP_001339538.1:p.Phe263LeufsTer8
NM_001352610.1:c.-157del	NP_001339539.1:n.-157del
NM_001352611.1:c.-157del	NP_001339540.1:n.-157del
NM_001352612.1:c.-157del	NP_001339541.1:n.-157del
NR_148027.1:n.895del
NR_148028.1:n.895del
NR_148029.1:n.817del
NR_148030.1:n.895del
NR_148031.1:n.895del
XM_017020605.1:c.789del	XP_016876094.1:p.Phe263LeufsTer8
XM_017020606.1:c.711del	XP_016876095.1:p.Phe237LeufsTer8
XM_017020607.1:c.690del	XP_016876096.1:p.Phe230LeufsTer8
XM_017020609.1:c.690del	XP_016876098.1:p.Phe230LeufsTer8
XM_017020611.1:c.789del	XP_016876100.1:p.Phe263LeufsTer8
XM_017020612.1:c.789del	XP_016876101.1:p.Phe263LeufsTer8
XM_017020613.1:c.789del	XP_016876102.1:p.Phe263LeufsTer8
XM_017020615.1:c.789del	XP_016876104.1:p.Phe263LeufsTer8
XM_017020616.1:c.789del	XP_016876105.1:p.Phe263LeufsTer8
XR_001749567.1:n.890del
XR_001749568.1:n.890del
XR_001749569.1:n.890del
XR_001749574.1:n.741del
XR_001749576.1:n.890del
XR_001749577.1:n.890del
NM_000282.4:c.789del MANE Select	NP_000273.2:p.Phe263LeufsTer8
NM_001352605.2:c.789del	NP_001339534.1:p.Phe263LeufsTer8
NM_001352606.2:c.789del	NP_001339535.1:p.Phe263LeufsTer8
NM_001352607.2:c.711del	NP_001339536.1:p.Phe237LeufsTer8
NM_001352608.2:c.711del	NP_001339537.1:p.Phe237LeufsTer8
NM_001352609.2:c.789del	NP_001339538.1:p.Phe263LeufsTer8
NM_001352610.2:c.-157del	NP_001339539.1:n.-157del
NM_001352611.2:c.-157del	NP_001339540.1:n.-157del
NM_001352612.2:c.-157del	NP_001339541.1:n.-157del
NR_148027.2:n.817del
NR_148028.2:n.817del
NR_148029.2:n.739del
NR_148030.2:n.817del
NR_148031.2:n.817del
NM_001127692.3:c.711del	NP_001121164.1:p.Phe237LeufsTer8
NM_001178004.2:c.789del	NP_001171475.1:p.Phe263LeufsTer8