Canonical Allele Identifier: CA2580087044

Gene: PCCA

Linked Data

• ClinVar Variation Id: 1726309
• ClinVar RCV Id: RCV002307280

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100262798del , CM000675.2:g.100262798del	GRCh38
NC_000013.10:g.100915052del , CM000675.1:g.100915052del	GRCh37
NC_000013.9:g.99713053del	NCBI36
NG_008768.1:g.178716del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.786del MANE Select	ENSP00000365462.1:p.Lys262AsnfsTer9
ENST00000636366.1:c.665del
ENST00000636420.1:c.665del
ENST00000636475.1:c.665del
ENST00000637657.1:c.665del
ENST00000647303.1:c.*634del	ENSP00000495663.1:n.*634del
ENST00000376279.7:c.786del	ENSP00000365456.3:p.Lys262AsnfsTer9
ENST00000376285.5:c.786del	ENSP00000365462.1:p.Lys262AsnfsTer9
ENST00000376286.8:c.708del	ENSP00000365463.4:p.Lys236AsnfsTer9
NM_000282.3:c.786del	NP_000273.2:p.Lys262AsnfsTer9
NM_001127692.2:c.708del	NP_001121164.1:p.Lys236AsnfsTer9
NM_001178004.1:c.786del	NP_001171475.1:p.Lys262AsnfsTer9
XM_005254059.2:c.786del	XP_005254116.1:p.Lys262AsnfsTer9
XM_011521093.1:c.786del	XP_011519395.1:p.Lys262AsnfsTer9
XR_931615.1:n.887del
XR_931616.1:n.887del
NM_001352605.1:c.786del	NP_001339534.1:p.Lys262AsnfsTer9
NM_001352606.1:c.786del	NP_001339535.1:p.Lys262AsnfsTer9
NM_001352607.1:c.708del	NP_001339536.1:p.Lys236AsnfsTer9
NM_001352608.1:c.708del	NP_001339537.1:p.Lys236AsnfsTer9
NM_001352609.1:c.786del	NP_001339538.1:p.Lys262AsnfsTer9
NM_001352610.1:c.-160del	NP_001339539.1:n.-160del
NM_001352611.1:c.-160del	NP_001339540.1:n.-160del
NM_001352612.1:c.-160del	NP_001339541.1:n.-160del
NR_148027.1:n.892del
NR_148028.1:n.892del
NR_148029.1:n.814del
NR_148030.1:n.892del
NR_148031.1:n.892del
XM_017020605.1:c.786del	XP_016876094.1:p.Lys262AsnfsTer9
XM_017020606.1:c.708del	XP_016876095.1:p.Lys236AsnfsTer9
XM_017020607.1:c.687del	XP_016876096.1:p.Lys229AsnfsTer9
XM_017020609.1:c.687del	XP_016876098.1:p.Lys229AsnfsTer9
XM_017020611.1:c.786del	XP_016876100.1:p.Lys262AsnfsTer9
XM_017020612.1:c.786del	XP_016876101.1:p.Lys262AsnfsTer9
XM_017020613.1:c.786del	XP_016876102.1:p.Lys262AsnfsTer9
XM_017020615.1:c.786del	XP_016876104.1:p.Lys262AsnfsTer9
XM_017020616.1:c.786del	XP_016876105.1:p.Lys262AsnfsTer9
XR_001749567.1:n.887del
XR_001749568.1:n.887del
XR_001749569.1:n.887del
XR_001749574.1:n.738del
XR_001749576.1:n.887del
XR_001749577.1:n.887del
NM_000282.4:c.786del MANE Select	NP_000273.2:p.Lys262AsnfsTer9
NM_001352605.2:c.786del	NP_001339534.1:p.Lys262AsnfsTer9
NM_001352606.2:c.786del	NP_001339535.1:p.Lys262AsnfsTer9
NM_001352607.2:c.708del	NP_001339536.1:p.Lys236AsnfsTer9
NM_001352608.2:c.708del	NP_001339537.1:p.Lys236AsnfsTer9
NM_001352609.2:c.786del	NP_001339538.1:p.Lys262AsnfsTer9
NM_001352610.2:c.-160del	NP_001339539.1:n.-160del
NM_001352611.2:c.-160del	NP_001339540.1:n.-160del
NM_001352612.2:c.-160del	NP_001339541.1:n.-160del
NR_148027.2:n.814del
NR_148028.2:n.814del
NR_148029.2:n.736del
NR_148030.2:n.814del
NR_148031.2:n.814del
NM_001127692.3:c.708del	NP_001121164.1:p.Lys236AsnfsTer9
NM_001178004.2:c.786del	NP_001171475.1:p.Lys262AsnfsTer9